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- Archives of Disease in Childhood
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Genetic screening / counselling
- PS-076 Novel Mutations Underlying Rare Familial EnteropathiesA AlmehaidibArchives of Disease in Childhood Oct 2014, 99 (Suppl 2) A139; DOI: 10.1136/archdischild-2014-307384.373
- O-224 Toll-like Receptors Genotype Polymorphism In Egyptian Children With Chronic Viral Hepatitis COE Soliman, AA Shaltout, BM Hasaneen, AE Mosaad, YM MosaadArchives of Disease in Childhood Oct 2014, 99 (Suppl 2) A110-A111; DOI: 10.1136/archdischild-2014-307384.294
- PS-039 A New Mutation Causing Familial Neurohypophyseal Diabetes Insipidus In A Portuguese FamilyS Lopes, A Fernandes, P Tavares, MC Lemos, S Gama de SousaArchives of Disease in Childhood Oct 2014, 99 (Suppl 2) A125; DOI: 10.1136/archdischild-2014-307384.334
- O-213 Association Of E-nos Gene Polymorphism In Development Of Bronchopulmonary DysplasiaM Cetinkaya, I Varturk, M Korachi, S Guven, IM Akin, T Erener-Ercan, G BuyukkaleArchives of Disease in Childhood Oct 2014, 99 (Suppl 2) A105-A106; DOI: 10.1136/archdischild-2014-307384.283
- O-176 New Tunisian Mutation In Pyridoxine – Dependent EpilepsyN Hentati, A Ben Thabet, A Tlili, L Walha, R Regaieg, A Bouraoui, A GargouriArchives of Disease in Childhood Oct 2014, 99 (Suppl 2) A92; DOI: 10.1136/archdischild-2014-307384.244
- G470 The UK Paediatric Familial Hypercholesterolaemia (FH) Register: Preliminary DataSE Humphries, U RamaswamiArchives of Disease in Childhood Apr 2014, 99 (Suppl 1) A195; DOI: 10.1136/archdischild-2014-306237.450
- G471 Somatic mosaicism in X-linked PDHA1 gene – a cause of developmental delay and epilepsyJS Kutty, E Crushell, M King, JAF HughesArchives of Disease in Childhood Apr 2014, 99 (Suppl 1) A195; DOI: 10.1136/archdischild-2014-306237.451
- G476(P) Trimethylaminuria: A case reportN Sabir, B PadmakumarArchives of Disease in Childhood Apr 2014, 99 (Suppl 1) A197; DOI: 10.1136/archdischild-2014-306237.456
- G441(P) Responding to hormone unresponsivenessI Bashir, V Samuel, S El-RefeeArchives of Disease in Childhood Apr 2014, 99 (Suppl 1) A184; DOI: 10.1136/archdischild-2014-306237.423
- G372(P) Early relapse of atypical HUS following ABO incompatible living related paediatric renal re-transplant successfully treated with eculizumabJ Stojanovic, N Mamode, K Knapp, E Wright, D Hothi, L Rees, A Waters, NJ Sebire, SD MarksArchives of Disease in Childhood Apr 2014, 99 (Suppl 1) A153-A154; DOI: 10.1136/archdischild-2014-306237.354
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