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1 . Academic Journal
Clinical, biochemical, and genetic spectrum of MADD in a South African cohort: an ICGNMD study
저자
by
Michelle Bisschoff
;
Izelle Smuts
;
Marli Dercksen
;
Maryke Schoonen
;
Barend C. Vorster
, et al.
소스
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-13 (2024)
Open Access (BioMed Central)
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Web of Science
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7 . Academic Journal
A novel mitochondrial DNA variant in MT-ND6: m.14430A>C p.(Trp82Gly) identified in a patient with Leigh syndrome and complex I deficiency
저자
by
Surita Meldau
;
Sally Ackermann
;
Gillian Riordan
;
George F. van der Watt
;
Careni Spencer
, et al.
소스
Molecular Genetics and Metabolism Reports, Vol 39, Iss , Pp 101078- (2024)
Full Text (ScienceDirect)
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7 . Academic Journal
Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies.
저자
by
Rocio Acuna-Hidalgo
;
Pelagia Deriziotis
;
Marloes Steehouwer
;
Christian Gilissen
;
Sarah A Graham
, et al.
소스
PLoS Genetics, Vol 13, Iss 3, p e1006683 (2017)
Open Access (DOAJ)
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7 .
ABL1‐related congenital heart defects and skeletal malformations syndrome in a patient from Sub‐Saharan Africa: A case report highlighting novel cardiac features
저자
by
Careni Spencer
;
George Comitis
;
John Lawrenson
;
Karen Fieggen
.
소스
American Journal of Medical Genetics Part A
. 191:1652-1655
Web of Science
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6 .
Gordon syndrome: Dental implications and a case report
저자
by
Manogari Chetty
;
Imaan Amina Roomaney
;
Careni Spencer
;
Jaco Walters
.
소스
Special Care in Dentistry
. 41:727-734
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6 .
A Feasible Molecular Diagnostic Strategy for Rare Genetic Disorders Within Resource- Constrained Environments
저자
by
Robyn Kerr
;
Zané Lombard
;
Patracia Nevondwe
;
Careni Spencer
;
Amanda Krause
, et al.
소스
Open Access (OpenAIRE)
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7 .
SCN3A ‐related neurodevelopmental disorder: A spectrum of epilepsy and brain malformation
저자
by
Thuy Anh Vu
;
Sally Ackermann
;
Andrew E. Fry
;
Seok Kyu Kang
;
Shelagh Joss
, et al.
소스
Ann Neurol
Full Text (Wiley)
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7 .
A recurrent mutation causing Melnick‐Needles syndrome in females confers a severe, lethal phenotype in males
저자
by
Hendrik Lombaard
;
Amy Wise
;
Careni Spencer
;
Amanda Krause
;
Stephen P. Robertson
.
소스
American Journal of Medical Genetics Part A
. 176:980-984
Web of Science
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7 .
Discordant monoamniotic twins with Pena–Shokeir phenotype
저자
by
Careni Spencer
;
Hennie Lombaard
;
Sumaiya Adam
.
소스
Clinical Case Reports
Open Access (Wiley)
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Scopus
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5 .
Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies
저자
by
Lilia Maria de Azevedo Moreira
;
Joris A. Veltman
;
Anne Destree
;
Ercan Mihci
;
Banu Güzel Nur
, et al.
소스
PLoS Genetics
PLoS Genetics (online), 13(3):e1006683. Public Library of Science
PLoS genetics, 13(3). PUBLIC LIBRARY SCIENCE
Plos Genetics, 13, e1006683-e1006683
Plos Genetics, 13, 3, pp. e1006683-e1006683
PLoS Genetics, Vol 13, Iss 3, p e1006683 (2017)
PLOS Genetics
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