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Number of items: 115.

A

Alatzoglou, KS; Dattani, MT; (2012) Phenotype-genotype correlations in congenital isolated growth hormone deficiency (IGHD). Indian J Pediatr , 79 (1) 99 - 106. 10.1007/s12098-011-0614-7.

Alston, CL; Davison, JE; Meloni, F; van der Westhuizen, FH; He, L; Hornig-Do, H-T; ... Taylor, RW; + view all (2012) Recessive germline SDHA and SDHB mutations causing leukodystrophy and isolated mitochondrial complex II deficiency. Journal of Medical Genetics , 49 (9) 569 -577. 10.1136/jmedgenet-2012-101146. Green and gold open access
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Andoniadou, CL; Gaston-Massuet, C; Reddy, R; Schneider, RP; Blasco, MA; Le Tissier, P; ... Martinez-Barbera, JP; + view all (2012) Identification of novel pathways involved in the pathogenesis of human adamantinomatous craniopharyngioma. Acta Neuropathologica 1 - 13.

Andoniadou, CL; Gaston-Massuet, C; Reddy, R; Schneider, RP; Blasco, MA; Le Tissier, P; ... Martinez-Barbera, JP; + view all (2012) Identification of novel pathways involved in the pathogenesis of human adamantinomatous craniopharyngioma. Acta Neuropathol , 124 (2) 259 - 271. 10.1007/s00401-012-0957-9. Gold open access

Arboleda, VA; Lee, H; Parnaik, R; Fleming, A; Banerjee, A; Ferraz-de-Souza, B; ... Vilain, E; + view all (2012) Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome. Nat Genet , 44 (7) 788 - 792. 10.1038/ng.2275.

Aylett, S-B; Neergheen, V; Eaton, S; Land, JM; Rahman, S; Heales, SJ; (2012) FACTORS AFFECTING 5-METHYLTETRAHYDROFOLATE (5MTHF) STABILITY: IMPLICATIONS FOR CEREBRAL 5MTHF DEFICIENCY. In: JOURNAL OF INHERITED METABOLIC DISEASE. (pp. S141 - S141).

Aylett, S-B; Varadkar, S; Fassone, E; Pope, S; Neergheen, V; Hargreaves, IP; ... Rahman, S; + view all (2012) CEREBRAL FOLATE DEFICIENCY ASSOCIATED WITH A NOVEL HOMOZYGOUS NONSENSE MUTATION IN FOLR1. In: JOURNAL OF INHERITED METABOLIC DISEASE. (pp. S138 - S138).

B

Bancalari, RE; Gregory, LC; McCabe, MJ; Dattani, MT; (2012) Pituitary gland development: an update. Endocr Dev , 23 1 - 15. 10.1159/000341733.

Bawazir, WM; Gevers, EF; Flatt, JF; Ang, AL; Jacobs, B; Oren, C; ... Stewart, GW; + view all (2012) An infant with pseudohyperkalemia, hemolysis, and seizures: cation-leaky GLUT1-deficiency syndrome due to a SLC2A1 mutation. J Clin Endocrinol Metab , 97 (6) E987 - E993. 10.1210/jc.2012-1399.

Bennett, K; Heywood, W; Di, WL; Harper, J; Clayman, GL; Jayakumar, A; ... Mills, K; + view all (2012) The identification of a new role for LEKTI in the skin: The use of protein 'bait' arrays to detect defective trafficking of dermcidin in the skin of patients with Netherton syndrome. J Proteomics , 75 (13) 3925 - 3937. 10.1016/j.jprot.2012.04.045.

Bochukova, E; Schoenmakers, N; Agostini, M; Schoenmakers, E; Rajanayagam, O; Keogh, JM; ... Chatterjee, K; + view all (2012) A mutation in the thyroid hormone receptor alpha gene. N Engl J Med , 366 (3) 243 - 249. 10.1056/NEJMoa1110296.

Brook, CGD; Dattani, MT; (2012) Handbook of Clinical Pediatric Endocrinology. Wiley

C

Carta, E; Pauws, E; Thomas, AC; Mengrelis, K; Moore, GE; Lees, M; Stanier, P; (2012) Investigation of SUMO pathway genes in the etiology of nonsyndromic cleft lip with or without cleft palate. Birth Defects Res A Clin Mol Teratol , 94 (6) 459 - 463. 10.1002/bdra.23008.

Charmandari, E; Achermann, JC; Carel, JC; Soder, O; Chrousos, GP; (2012) Stress response and child health. Sci Signal , 5 (248) mr1 - ?. 10.1126/scisignal.2003595.

Chong, CP; Mills, PB; McClean, P; Gissen, P; Bruce, C; Stahlschmidt, J; ... Clayton, PT; + view all (2012) Bile acid-CoA ligase deficiency--a new inborn error of bile acid metabolism. J Inherit Metab Dis , 35 (3) 521 - 530. 10.1007/s10545-011-9416-3.

Christesen, HT; Brusgaard, K; Hussain, K; (2012) Recurrent spontaneous hypoglycaemia causes loss of neurogenic and neuroglycopaenic signs in infants with congenital hyperinsulinism. Clinical Endocrinology , 76 (4) 548 - 554. 10.1111/j.1365-2265.2011.04250.x.

D

Duberley, KEC; Hargreaves, IP; Chaiwatanasirikul, K; Heales, SJ; Rahman, S; Mills, K; Eaton, S; (2012) DEVELOPMENT OF A MASS SPECTROMETRY METHOD (MS/MS) FOR QUANTIFICATION OF COENZYME Q10 IN CSF. In: JOURNAL OF INHERITED METABOLIC DISEASE. (pp. S124 - S124).

Duncan, AJ; Knight, JA; Costello, H; Conway, GS; Rahman, S; (2012) POLG mutations and age at menopause. Hum Reprod , 27 (7) 2243 - 2244. 10.1093/humrep/des130.

E

El-Khairi, R; Achermann, JC; (2012) Steroidogenic factor-1 and human disease. Semin Reprod Med , 30 (5) 374 - 381. 10.1055/s-0032-1324720.

El-Khairi, R; Parnaik, R; Duncan, AJ; Lin, L; Gerrelli, D; Dattani, MT; ... Achermann, JC; + view all (2012) Analysis of LIN28A in early human ovary development and as a candidate gene for primary ovarian insufficiency. Mol Cell Endocrinol , 351 (2) 264 - 268. 10.1016/j.mce.2011.12.016. Gold open access

F

Fassone, E; Rahman, S; (2012) Complex I deficiency: clinical features, biochemistry and molecular genetics (vol 49, pg 578, 2012). JOURNAL OF MEDICAL GENETICS , 49 (10) 668 - 668. 10.1136/jmedgenet-2012-101159corr1.

Fassone, E; Rahman, S; (2012) Complex I deficiency: clinical features, biochemistry and molecular genetics. J Med Genet , 49 (9) 578 - 590. 10.1136/jmedgenet-2012-101159.

Fassone, E; Taanman, JW; Sweeney, MG; Woodward, C; Hargreaves, IP; Hanna, MG; ... Rahman, S; + view all (2012) WHOLE EXOME SEQUENCING REVEALS THAT SUBUNIT MUTATIONS ARE PREVALENT IN COMPLEX I DEFICIENT LEIGH SYNDROME. In: JOURNAL OF INHERITED METABOLIC DISEASE. (pp. S13 - S13).

Flanagan, S; Damhuis, A; Banerjee, I; Rokicki, D; Jefferies, C; Kapoor, R; ... Ellard, S; + view all (2012) Partial ABCC8 gene deletion mutations causing diazoxide-unresponsive hyperinsulinaemic hypoglycaemia. Pediatr Diabetes , 13 (3) 285 - 289. 10.1111/j.1399-5448.2011.00821.x.

Flanagan, SE; Mackay, DJG; Greeley, SAW; McDonald, TJ; Mericq, V; Hassing, J; ... Hattersley, AT; + view all (2012) Hypoglycaemia following diabetes remission in patients with 6q24 methylation defects: expanding the clinical phenotype. Diabetologia 1 - 4.

Foley, AR; Broomfield, AA; Pandraud, A; Johnson, JO; Singleton, AB; Hargreaves, IP; ... Muntoni, F; + view all (2012) High-dose riboflavin therapy in Brown-Vialetto-Van Laere syndrome: clinical and biochemical improvement. In: NEUROMUSCULAR DISORDERS. (pp. S4 - S4).

G

García-Obregón, S; Alfonso-Sánchez, MA; Pérez-Miranda, AM; Gómez-Pérez, L; de Parcorbo, MM; Peña, JA; (2012) Ancestry markers from the human chromosome 6: Alu repeats from the MHC in autochthonous Basques. Hum Immunol , 73 (7) 720 - 725. 10.1016/j.humimm.2012.04.010.

Gegg, ME; Burke, D; Heales, SJ; Cooper, JM; Hardy, J; Wood, NW; Schapira, AH; (2012) Glucocerebrosidase deficiency in substantia nigra of parkinson disease brains. Ann Neurol , 72 (3) 455 - 463. 10.1002/ana.23614.

Glamuzina, E; Brown, R; Hogarth, K; Saunders, D; Russell-Eggitt, I; Pitt, M; ... Grunewald, S; + view all (2012) Further delineation of pontocerebellar hypoplasia type 6 due to mutations in the gene encoding mitochondrial arginyl-tRNA synthetase, RARS2. J Inherit Metab Dis , 35 (3) 459 - 467. 10.1007/s10545-011-9413-6.

Gray, Z; McKay, K; Lloyd, C; Hartley, J; MacDonald, F; Hendriksz, CJ; ... Kelly, DA; + view all (2012) A PROJECT TO IDENTIFY GENES THAT CAUSE RECESSIVE INHERITED LIVER DISEASES. In: JOURNAL OF INHERITED METABOLIC DISEASE. (pp. S105 - S105).

H

Haas, D; Gan-Schreier, H; Langhans, C-D; Hoffmann, GF; Okun, JG; Rohrer, T; ... Clayton, PT; + view all (2012) Differential diagnosis in patients with suspected bile acid synthesis defects. World Journal of Gastroenterology , 18 (10) 1067 - 1076. 10.3748/wjg.v18.i10.1067. Gold open access

Habeb, AM; Al-Magamsi, MS; Eid, IM; Ali, MI; Hattersley, AT; Ellard, S; Hussain, K; (2012) Incidence, genetics, and clinical phenotype of permanent neonatal diabetes mellitus in northwest Saudi Arabia. Pediatric Diabetes , 13 (6) 499 - 505. 10.1111/j.1399-5448.2011.00828.x.

Habeb, AM; Al-Magamsi, MS; Eid, IM; Ali, MI; Hattersley, AT; Hussain, K; Ellard, S; (2012) Incidence, genetics, and clinical phenotype of permanent neonatal diabetes mellitus in northwest Saudi Arabia. Pediatr Diabetes , 13 (6) 499 - 505. 10.1111/j.1399-5448.2011.00828.x.

Habeb, AM; Flanagan, SE; Hattersley, AT; Ellard, S; Deeb, A; Al-Alwan, I; ... Hussain, K; + view all (2012) Permanent neonatal diabetes: Different aetiology in Arabs compared to Europeans. Archives of Disease in Childhood , 97 (8) 721 - 723. 10.1136/archdischild-2012-301744.

Hadzic, N; Bull, LN; Clayton, PT; Knisely, AS; (2012) Diagnosis in bile acid-CoA: Amino acid N-acyltransferase deficiency. WORLD JOURNAL OF GASTROENTEROLOGY , 18 (25) 3322 - 3326. 10.3748/wjg.v18.i25.3322. Gold open access

Hall, A; Pembrey, M; Lutman, M; Steer, C; Bitner-Glindzicz, M; (2012) Prevalence and audiological features in carriers of GJB2 mutations, c.35delG and c.101T>C (p.M34T), in a UK population study. BMJ Open , 2 (4) 10.1136/bmjopen-2012-001238.

Harron, K; Wade, A; Muller-Pebody, B; Goldstein, H; Gilbert, R; (2012) Opening the black box of record linkage. J Epidemiol Community Health , 66 (12) 1198 - ?. 10.1136/jech-2012-201376.

Harron, KL; McKinney, PA; Feltbower, RG; Holland, P; Campbell, FM; Parslow, RC; (2012) Resource and outcome in paediatric diabetes services. Arch Dis Child , 97 (6) 526 - 528. 10.1136/adc.2010.198275.

Heslegrave, AJ; Kapoor, RR; Eaton, S; Chadefaux, B; Akcay, T; Simsek, E; ... Hussain, K; + view all (2012) Leucine-sensitive hyperinsulinaemic hypoglycaemia in patients with loss of function mutations in 3-Hydroxyacyl-CoA Dehydrogenase. Orphanet J Rare Dis , 7 (1) 25 - ?. 10.1186/1750-1172-7-25. Gold open access

Heywood, W; Mills, K; Wang, D; Hogg, J; Madgett, TE; Avent, ND; Chitty, LS; (2012) Identification of new biomarkers for Down's syndrome in maternal plasma. J Proteomics , 75 (9) 2621 - 2628. 10.1016/j.jprot.2012.03.007.

Heywood, W; Wang, D; Madgett, TE; Avent, ND; Eaton, S; Chitty, LS; Mills, K; (2012) The development of a peptide SRM-based tandem mass spectrometry assay for prenatal screening of Down syndrome. J Proteomics , 75 (11) 3248 - 3257. 10.1016/j.jprot.2012.03.037.

Hindmarsh, PC; (2012) Endocrine Society Congenital Adrenal Hyperplasia Guidelines: great content but how to deliver? Clin Endocrinol (Oxf) , 76 (4) 465 - 466. 10.1111/j.1365-2265.2011.04289.x.

Hindmarsh, PC; (2012) Growth hormone treatment 50 years down the line - are we getting value? Clin Endocrinol (Oxf) , 77 (1) 11 - 12. 10.1111/j.1365-2265.2012.04380.x.

I

Illingworth, MA; Boyd, S; Varadkar, S; Rahman, S; (2012) EPILEPTIC PHENOTYPES IN CHILDREN WITH PROVEN MITOCHONDRIAL DISEASE AND EPILEPSY. In: JOURNAL OF INHERITED METABOLIC DISEASE. (pp. S120 - S120).

Ishida, M; Monk, D; Duncan, AJ; Abu-Amero, S; Chong, J; Ring, SM; ... Moore, GE; + view all (2012) Maternal inheritance of a promoter variant in the imprinted PHLDA2 gene significantly increases birth weight. The American Journal of Human Genetics , 90 (4) 715 - 719. 10.1016/j.ajhg.2012.02.021. Green and gold open access
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Ishida, M.; (2012) The role of imprinted genes in human fetal growth. Doctoral thesis, UCL (University College London).

Ismail, D; Kapoor, RR; Smith, VV; Ashworth, M; Blankenstein, O; Pierro, A; ... Hussain, K; + view all (2012) The heterogeneity of focal forms of congenital hyperinsulinism. J Clin Endocrinol Metab , 97 (1) E94 - E99. 10.1210/jc.2011-1628.

J

Jayakody, SA; Andoniadou, CL; Gaston-Massuet, C; Signore, M; Cariboni, A; Bouloux, PM; ... Martinez-Barbera, JP; + view all (2012) SOX2 regulates the hypothalamic-pituitary axis at multiple levels. J Clin Invest , 122 (10) 3635 - 3646. 10.1172/JCI64311. Gold open access

Johnson, JO; Gibbs, JR; Megarbane, A; Urtizberea, JA; Hernandez, DG; Foley, AR; ... Singleton, AB; + view all (2012) Exome sequencing reveals riboflavin transporter mutations as a cause of motor neuron disease. Brain , 135 (Pt 9) 2875 - 2882. 10.1093/brain/aws161.

Jones, ML; Murden, SL; Bem, D; Mundell, SJ; Gissen, P; Daly, ME; ... UK GAPP study group,; + view all (2012) Rapid genetic diagnosis of heritable platelet function disorders with next-generation sequencing: proof-of-principle with Hermansky-Pudlak syndrome. J Thromb Haemost , 10 (2) 306 - 309. 10.1111/j.1538-7836.2011.04569.x.

K

Kapoor, RR; Flanagan, SE; Ellard, S; Hussain, K; (2012) Congenital hyperinsulinism: marked clinical heterogeneity in siblings with identical mutations in the ABCC8 gene. Clin Endocrinol (Oxf) , 76 (2) 312 - 313. 10.1111/j.1365-2265.2011.04203.x.

Kapoor, RR; James, CT; Hussain, K; (2012) HNF4A and hyperinsulinemic hypoglycemia. Frontiers in Diabetes , 21 182 - 190. 10.1159/000334532.

Khalid, JM; Oerton, JM; Dezateux, C; Hindmarsh, PC; Kelnar, CJ; Knowles, RL; (2012) Incidence and clinical features of congenital adrenal hyperplasia in Great Britain. Arch Dis Child , 97 (2) 101 - 106. 10.1136/archdischild-2011-300234.

Kinsler, V; Hindmarsh, P; Dattani, M; Cole, T; Khan, S; White, A; ... Moore, G; + view all (2012) Abnormalities of growth and endocrinology in children with congenital melanocytic naevi. In: BRITISH JOURNAL OF DERMATOLOGY. (pp. 131 - 131).

Kinsler, V; Shaw, AC; Merks, JH; Hennekam, RC; (2012) The face in congenital melanocytic nevus syndrome. Am J Med Genet A , 158A (5) 1014 - 1019. 10.1002/ajmg.a.34217.

Kinsler, VA; (2012) Studies of congenital melanocytic naevi. Doctoral thesis, UCL (University College London).

Kinsler, VA; Abu-Amero, S; Budd, P; Jackson, IJ; Ring, SM; Northstone, K; ... Healy, E; + view all (2012) Germline melanocortin-1-receptor genotype is associated with severity of cutaneous phenotype in congenital melanocytic nevi: a role for MC1R in human fetal development. J Invest Dermatol , 132 (8) 2026 - 2032. 10.1038/jid.2012.95.

Kinsler, VA; Paine, SM; Anderson, GW; Wijesekara, DS; Sebire, NJ; Chong, WK; ... Jacques, TS; + view all (2012) Neuropathology of neurocutaneous melanosis: histological foci of melanotic neurones and glia may be undetectable on MRI. Acta Neuropathol 10.1007/s00401-012-0945-0.

Kinsler, VA; Thomas, AC; Ishida, M; Bulstrode, NW; Loughlin, S; Hing, S; ... Moore, GE; + view all (2012) Multiple congenital melanocytic naevi and neurocutaneous melanosis are caused by mosaicism for NRAS codon 61 mutations, leading to an increased risk of melanoma in affected tissues. In: GENETICS RESEARCH. (pp. 358 - 359).

Krone, N; Reisch, N; Idkowiak, J; Dhir, V; Ivison, HE; Hughes, BA; ... Arlt, W; + view all (2012) Genotype-phenotype analysis in congenital adrenal hyperplasia due to P450 oxidoreductase deficiency. J Clin Endocrinol Metab , 97 (2) E257 - E267. 10.1210/jc.2011-0640.

L

Le Quesne Stabej, P; Saihan, Z; Rangesh, N; Steele-Stallard, HB; Ambrose, J; Coffey, A; ... Bitner-Glindzicz, M; + view all (2012) Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study. J Med Genet , 49 (1) 27 - 36. 10.1136/jmedgenet-2011-100468.

Lescai, F; Bonfiglio, S; Bacchelli, C; Chanudet, E; Waters, A; Sisodiya, SM; ... Stupka, E; + view all (2012) Characterisation and validation of insertions and deletions in 173 patient exomes. PLoS One , 7 (12) , Article e51292 . 10.1371/journal.pone.0051292. Green and gold open access
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M

Manwaring, V; Heywood, W; Heales, S; Mills, K; (2012) IDENTIFICATION OF THE POTENTIAL URINARY BIOMARKER PROACTIVATOR POLYPEPTIDE IN FABRY DISEASE. JOURNAL OF INHERITED METABOLIC DISEASE , 35 S93 - S93.

Mattsson, N; Zegers, I; Andreasson, U; Bjerke, M; Blankenstein, MA; Bowser, R; ... Portelius, E; + view all (2012) Reference measurement procedures for Alzheimer's disease cerebrospinal fluid biomarkers: definitions and approaches with focus on amyloid β42. Biomark Med , 6 (4) 409 - 417. 10.2217/bmm.12.39.

Mazharian, A; Wang, Y-J; Mori, J; Bem, D; Finney, B; Heising, S; ... Campbell, RD; + view all (2012) Mice lacking the ITIM-containing receptor G6b-B exhibit macrothrombocytopenia and aberrant platelet function. Science Signaling , 5 (248) 10.1126/scisignal.2002936.

Mckay, KE; Bruce, CK; Hunt, J; Hartley, JL; Hendriksz, CJ; Kelly, DA; ... Gissen, P; + view all (2012) MOLECULAR GENETIC TESTING FOR NIEMANN-PICK DISEASE TYPE C IN BIRMINGHAM. In: JOURNAL OF INHERITED METABOLIC DISEASE. (pp. S106 - S106).

Mead, EL; Mosley, A; Eaton, S; Dobson, L; Heales, SJ; Pocock, JM; (2012) Microglial neurotransmitter receptors trigger superoxide production in microglia; consequences for microglial-neuronal interactions. J Neurochem , 121 (2) 287 - 301. 10.1111/j.1471-4159.2012.07659.x.

Michot, C; Hubert, L; Romero, NB; Gouda, A; Mamoune, A; Mathew, S; ... de Lonlay, P; + view all (2012) Study of LPIN1, LPIN2 and LPIN3 in rhabdomyolysis and exercise-induced myalgia. J Inherit Metab Dis , 35 (6) 1119 - 1128. 10.1007/s10545-012-9461-6.

Miletta, MC; Scheidegger, UA; Giordano, M; Bozzola, M; Pagani, S; Bona, G; ... Mullis, PE; + view all (2012) Association of the (CA)n repeat polymorphism of insulin-like growth factor-I and -202 A/C IGF-binding protein-3 promoter polymorphism with adult height in patients with severe growth hormone deficiency. Clin Endocrinol (Oxf) , 76 (5) 683 - 690. 10.1111/j.1365-2265.2011.04267.x.

Mills, PB; Footitt, EJ; Ceyhan, S; Waters, PJ; Jakobs, C; Clayton, PT; Struys, EA; (2012) Urinary AASA excretion is elevated in patients with molybdenum cofactor deficiency and isolated sulphite oxidase deficiency. J Inherit Metab Dis , 35 (6) 1031 - 1036. 10.1007/s10545-012-9466-1.

Mills, PB; Footitt, EJ; Clayton, PT; Ceyhan, S; Jakobs, C; Struys, EA; Waters, PJ; (2012) Urinary AASA excretion is elevated in patients with molybdenum cofactor deficiency and isolated sulphite oxidase deficiency. Journal of Inherited Metabolic Disease , 35 (6) 1031 - 1036. 10.1007/s10545-012-9466-1.

Mohamed, Z; Arya, VB; Hussain, K; (2012) Hyperinsulinaemic hypoglycaemia:genetic mechanisms, diagnosis and management. J Clin Res Pediatr Endocrinol , 4 (4) 169 - 181. 10.4274/jcrpe.821. Gold open access

N

Nahorski, MS; Seabra, L; Reiman, A; Lu, X; Maher, ER; Straatman-Iwanowska, A; ... Teh, BT; + view all (2012) Folliculin interacts with p0071 (plakophilin-4) and deficiency is associated with disordered rhoa signalling, epithelial polarization and cytokinesis. Human Molecular Genetics , 21 (24) 5268 - 5279. 10.1093/hmg/dds378. Green and gold open access
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Nesbitt, V; Pitceathly, R; Cockell, S; Poulton, J; Rahman, S; Hanna, M; ... McFarland, R; + view all (2012) The medical research council neuromuscular centre for translational research mitochondrial disease patient cohort study UK: from conceptualisation to utilisation. In: NEUROMUSCULAR DISORDERS. (pp. S24 - S24).

Nessa, A; Kumaran, A; Kirk, R; Dalton, A; Ismail, D; Hussain, K; (2012) Mutational analysis of the GYS2 gene in patients diagnosed with ketotic hypoglycaemia. JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM , 25 (9-10) 963 - 967. 10.1515/jpem-2012-0165.

Ng, J; Carr, LJ; Devile, C; Hemingway, C; Lewis, V; Mordekar, SR; ... Kurian, MA; + view all (2012) CLINICAL FEATURES OF PRIMARY DYSTONIAS AND OTHER MOVEMENT DISORDERS ASSOCIATED WITH SELECTIVE SEROTONIN DEFICIENCY (SSD). In: JOURNAL OF INHERITED METABOLIC DISEASE. (pp. S19 - S19).

Ng, J; Tuschl, K; Carr, LJ; Cleary, M; Devlin, A; Manzur, A; ... Kurian, MA; + view all (2012) CLINICAL AND BIOCHEMICAL DELINEATION OF TH GENE-NEGATIVE SEVERE INFANTILE DOPAMINE DEFICIENCY. In: JOURNAL OF INHERITED METABOLIC DISEASE. (pp. S139 - S139).

P

Padidela, R; Bennett, K; Nessa, A; Wells, J; Aufieri, R; James, C; ... Hussain, K; + view all (2012) Severe resistance to weight gain, lack of stored triglycerides in adipose tissue, hypoglycaemia, and increased energy expenditure: a novel disorder of energy homeostasis. Horm Res Paediatr , 77 (4) 261 - 268. 10.1159/000337248.

Padidela, R; Bryan, SM; Abu-Amero, S; Hudson-Davies, RE; Achermann, JC; Moore, GE; Hindmarsh, PC; (2012) The growth hormone receptor gene deleted for exon three (GHRd3) polymorphism is associated with birth and placental weight. Clinical Endocrinology , 76 (2) 236 - 240. 10.1111/j.1365-2265.2011.04207.x. Green and gold open access
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Pandraud, A; Clayton, P; Foley, AR; Muntoni, F; Johnson, JO; Singleton, AB; ... Houlden, H; + view all (2012) INVESTIGATION OF RIBOFLAVIN TRANSPORTER MUTATIONS IN BROWN-VIALETTO-VAN LAERE SYNDROME, A POTENTIALLY TREATABLE METABOLIC DISEASE. JOURNAL OF INHERITED METABOLIC DISEASE , 35 S18 - S18.

Pandraud, A; Johnson, JO; Singleton, AB; Clayton, P; Land, J; Hargreaves, I; ... Houlden, H; + view all (2012) Genetic and functional investigation of Brown-Vialetto-Van Laere syndrome and related neuropathies. In: NEUROMUSCULAR DISORDERS. (pp. S19 - S20).

Peters, CJ; Dattani, MT; (2012) How to use insulin-like growth factor 1 (IGF1). Arch Dis Child Educ Pract Ed , 97 (3) 114 - 118. 10.1136/archdischild-2011-300265.

Pitceathly, RD; Murphy, SM; Cottenie, E; Chalasani, A; Sweeney, MG; Woodward, C; ... Hanna, MG; + view all (2012) Genetic dysfunction of MT-ATP6 causes axonal Charcot-Marie-Tooth disease. In: Neurology. (pp. 1145 - 1154).

Pitceathly, RD; Rahman, S; Hanna, MG; (2012) Single deletions in mitochondrial DNA--molecular mechanisms and disease phenotypes in clinical practice. Neuromuscular Disorders , 22 (7) 577 - 586. 10.1016/j.nmd.2012.03.009. Green and gold open access
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Pitceathly, RDS; Murphy, SM; Cottenie, E; Chalasani, A; Sweeney, MG; Woodward, C; ... Hanna, MG; + view all (2012) Genetic dysfunction of MT-ATP6 causes axonal Charcot-Marie-Tooth disease. NEUROLOGY , 79 (11) 1145 - 1154.

Pitceathly, RDS; Tomlinson, SE; Hargreaves, I; Bhardwaj, N; Holton, JL; Evans, J; ... Rahman, S; + view all (2012) NOVEL DOMINANT POLG MUTATIONS CAUSE DISTAL MYOPATHY. In: JOURNAL OF INHERITED METABOLIC DISEASE. (pp. S119 - S119).

Prasov, L; Masud, T; Khaliq, S; Mehdi, SQ; Abid, A; Oliver, ER; ... Glaser, T; + view all (2012) ATOH7 mutations cause autosomal recessive persistent hyperplasia of the primary vitreous. Hum Mol Genet , 21 (16) 3681 - 3694. 10.1093/hmg/dds197.

R

Rafeullah, N; Cackett, N; Hussain, K; (2012) Fasting hypoglycaemia and postprandial hyperglycaemia as a prodrome of type 1 diabetes mellitus. Horm Res Paediatr , 78 (5-6) 332 - 335. 10.1159/000337254.

Rahman, S; (2012) Mitochondrial disease and epilepsy. Dev Med Child Neurol , 54 (5) 397 - 406. 10.1111/j.1469-8749.2011.04214.x.

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This list was generated on Sun Apr 13 05:52:30 2014 BST.