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Journal Article
Nature Genetics, ISSN 1061-4036, 2012, Volume 44, Issue 5, pp. 581 - 585
Journal Article
Journal Article
Neurology, ISSN 0028-3878, 2015, Volume 84, Issue 21, pp. 2177 - 2182
OBJECTIVE: To identify the underlying genetic defect in 5 patients from a consanguineous family with a Walker-Warburg phenotype, together with intracranial... 
ALPHA-DYSTROGLYCAN | CELLS | DISEASE | MUSCULAR-DYSTROPHIES | MUSCLE | MUTATIONS | CLINICAL NEUROLOGY | Dystroglycans - deficiency | Frameshift Mutation | Humans | Arabs - genetics | Dystroglycans - genetics | Female | Infant | Consanguinity | Walker-Warburg Syndrome - genetics | Israel | Infant, Newborn | Walker-Warburg Syndrome - pathology | Index Medicus | Abridged Index Medicus
Journal Article
PLoS genetics, ISSN 1553-7390, 2011, Volume 7, Issue 7, pp. e1002114 - e1002114
Journal Article
Genetics in Medicine, ISSN 1098-3600, 2016, Volume 18, Issue 11, pp. 1158 - 1162
Journal Article
EUROPEAN JOURNAL OF HUMAN GENETICS, ISSN 1018-4813, 07/2019, Volume 27, Issue 7, pp. 1101 - 1112
We aimed to identify novel deletions and variants of TP63 associated with orofacial clefting (OFC). Copy number variants were assessed in three OFC families... 
P63 GENE | LIMB | DOMAIN | EEC | BIOCHEMISTRY & MOLECULAR BIOLOGY | GENETICS & HEREDITY | FOOT MALFORMATION | MUTATIONS | P53 HOMOLOG | p63 Protein | Phenotypes | Oligomerization | DNA microarrays | DNA probes | Nonsense mutation | Copy number | Alleles | Stop codon | Cleft lip/palate
Journal Article
Clinical chemistry, ISSN 0009-9147, 08/2019, p. clinchem.2019.305391
Many muscular dystrophies currently remain untreatable. Recently, dietary ribitol has been suggested as a treatment for cytidine diphosphate (CDP)-L-ribitol... 
Index Medicus
Journal Article