Faculty Opinions recommendation of Compound heterozygous SLC29A3 mutation causes H syndrome in a Moroccan patient: A case report.

2016 ◽  
Author(s):  
Abraham Zlotogorski ◽  
Yuval Ramot
Keyword(s):  
Case Report ◽  
Compound Heterozygous ◽  
Moroccan Patient

Compound heterozygous SLC29A3 mutation causes H syndrome in a Moroccan patient: A case report

2016 ◽  
Vol 64 (2) ◽  
pp. 65-68 ◽  
Author(s):  
A. Bakhchane ◽  
Z. Kindil ◽  
H. Charoute ◽  
K. Benchikhi ◽  
K. Khadir ◽  
...  
Keyword(s):  
Case Report ◽  
Compound Heterozygous ◽  
Moroccan Patient

scholarly journals Early Lethal Noncompaction Cardiomyopathy in siblings with compound heterozygous RYR2 variants: A Case Report

2021 ◽  
Author(s):  
Jantiene C. Duvekot ◽  
Annette F. Baas ◽  
Catharina M.L. Volker-Touw ◽  
Hennie Bikker ◽  
Christian Schroer ◽  
...  
Keyword(s):  
Case Report ◽  
Compound Heterozygous ◽  
Noncompaction Cardiomyopathy

scholarly journals Case Report Identification of novel compound heterozygous RECQL4 mutations and prenatal diagnosis of Baller-Gerold syndrome: a case report

2015 ◽  
Vol 14 (2) ◽  
pp. 4757-4766 ◽  
Author(s):  
D.H. Cao ◽  
K. Mu ◽  
D.N. Liu ◽  
J.L. Sun ◽  
X.Z. Bai ◽  
...  
Keyword(s):  
Case Report ◽  
Prenatal Diagnosis ◽  
Compound Heterozygous

scholarly journals Compound heterozygous mutations in the neuraminidase 1 gene in type 1 sialidosis: A case report and review of literature

2021 ◽  
Vol 9 (3) ◽  
pp. 623-631
Author(s):  
Lan-Xiao Cao ◽  
Ying Liu ◽  
Zhao-Jun Song ◽  
Bao-Rong Zhang ◽  
Wen-Ying Long ◽  
...  
Keyword(s):  
Case Report ◽  
Compound Heterozygous ◽  
Review Of Literature ◽  
Compound Heterozygous Mutations
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