about
No evidence of locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndromeMutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndromeAetiology of childhood hearing loss in Cameroon (sub-Saharan Africa).Dental needs of intellectualy disabled children attending six special educational facilities in Cape Town.Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome.Osteogenesis imperfecta type 3 in South Africa: Causative mutations in FKBP10.Bardet Biedl syndrome in South Africa: A single founder mutation.Novel Zeb2 gene variation in the Mowat Wilson syndrome (MWS).Implications of direct-to-consumer whole-exome sequencing in South Africa.Predictive genetic testing in children: constitutional mismatch repair deficiency cancer predisposing syndrome.Novel LMNA mutations cause an aggressive atypical neonatal progeria without progerin accumulation.A clinical and molecular investigation of two South African families with Simpson-Golabi-Behmel syndrome.Mutations in chaperonin-like BBS genes are a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient population.Biallelic BRCA2 mutations in two black South African children with Fanconi anaemia.Identification of a single MPV17 nonsense-associated altered splice variant in 24 South African infants with mitochondrial neurohepatopathy.Clinical phenotype of South African children with neurofibromatosis 1.Beyond the Caster Semenya controversy: the case of the use of genetics for gender testing in sport.Williams-Beuren syndrome in diverse populations.The burden of sickle cell disease in Cape TownBBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definitionThe First Case of Riboflavin Transporter Deficiency in sub-Saharan AfricaBirth outcomes following antiretroviral exposure during pregnancy: Initial results from a pregnancy exposure registry in South Africa
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P50
description
hulumtuese
@sq
researcher
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wetenschapper
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հետազոտող
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name
Karen Fieggen
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Karen Fieggen
@en
Karen Fieggen
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Karen Fieggen
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type
label
Karen Fieggen
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Karen Fieggen
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Karen Fieggen
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Karen Fieggen
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prefLabel
Karen Fieggen
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Karen Fieggen
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Karen Fieggen
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Karen Fieggen
@nl
P106
P1153
8535075600
P21
P31
P496
0000-0002-2910-6306