Lista de obras - Karen Fieggen - Dominio Público Uruguay

A clinical and molecular investigation of two South African families with Simpson-Golabi-Behmel syndrome

artículo científico publicado en 2016

Aetiology of childhood hearing loss in Cameroon (sub-Saharan Africa).

artículo científico publicado en 2012

BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition

artículo científico publicado en 2011

Bardet Biedl syndrome in South Africa: A single founder mutation.

artículo científico publicado en 2016

Beyond the Caster Semenya controversy: the case of the use of genetics for gender testing in sport

artículo científico publicado en 2010

Biallelic BRCA2 mutations in two black South African children with Fanconi anaemia

artículo científico publicado en 2017

Birth outcomes following antiretroviral exposure during pregnancy: Initial results from a pregnancy exposure registry in South Africa

artículo científico publicado en 2019

Clinical phenotype of South African children with neurofibromatosis 1.

artículo científico publicado en 2006

Dental needs of intellectualy disabled children attending six special educational facilities in Cape Town.

artículo científico publicado en 2016

Identification of a single MPV17 nonsense-associated altered splice variant in 24 South African infants with mitochondrial neurohepatopathy.

artículo científico publicado en 2018

Implications of direct-to-consumer whole-exome sequencing in South Africa.

artículo científico publicado en 2016

Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome.

artículo científico publicado en 2010

Mutations in chaperonin-like BBS genes are a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient population

artículo científico publicado en 2010

Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome

artículo científico publicado en 2005

No evidence of locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome

artículo científico publicado en 2015

Novel LMNA mutations cause an aggressive atypical neonatal progeria without progerin accumulation

artículo científico publicado en 2016

Novel Zeb2 gene variation in the Mowat Wilson syndrome (MWS).

artículo científico publicado en 2015

Osteogenesis imperfecta type 3 in South Africa: Causative mutations in FKBP10.

artículo científico publicado en 2017

Predictive genetic testing in children: constitutional mismatch repair deficiency cancer predisposing syndrome

artículo científico publicado en 2013

The First Case of Riboflavin Transporter Deficiency in sub-Saharan Africa

artículo científico publicado en 2017

The burden of sickle cell disease in Cape Town

artículo científico publicado en 2012

Williams–Beuren syndrome in diverse populations

artículo científico publicado en 2018

Lista de obras de Karen Fieggen

A clinical and molecular investigation of two South African families with Simpson-Golabi-Behmel syndrome

Aetiology of childhood hearing loss in Cameroon (sub-Saharan Africa).

BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition

Bardet Biedl syndrome in South Africa: A single founder mutation.

Beyond the Caster Semenya controversy: the case of the use of genetics for gender testing in sport

Biallelic BRCA2 mutations in two black South African children with Fanconi anaemia

Birth outcomes following antiretroviral exposure during pregnancy: Initial results from a pregnancy exposure registry in South Africa

Clinical phenotype of South African children with neurofibromatosis 1.

Dental needs of intellectualy disabled children attending six special educational facilities in Cape Town.

Identification of a single MPV17 nonsense-associated altered splice variant in 24 South African infants with mitochondrial neurohepatopathy.

Implications of direct-to-consumer whole-exome sequencing in South Africa.

Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome.

Mutations in chaperonin-like BBS genes are a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient population

Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome

No evidence of locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome

Novel LMNA mutations cause an aggressive atypical neonatal progeria without progerin accumulation

Novel Zeb2 gene variation in the Mowat Wilson syndrome (MWS).

Osteogenesis imperfecta type 3 in South Africa: Causative mutations in FKBP10.

Predictive genetic testing in children: constitutional mismatch repair deficiency cancer predisposing syndrome

The First Case of Riboflavin Transporter Deficiency in sub-Saharan Africa

The burden of sickle cell disease in Cape Town

Williams–Beuren syndrome in diverse populations