scholarly journals Mutation analysis and prenatal diagnosis of a family with congenital contractural arachnodactyly

2021 ◽  
Author(s):  
Lin Hu ◽  
Huanzheng Li ◽  
Guang Sun ◽  
Ke Wu ◽  
Zhaotang Luan ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Mutation Analysis ◽  
Congenital Contractural Arachnodactyly

scholarly journals Mutation Analysis for Heterozygote Detection and the Prenatal Diagnosis of Cystic Fibrosis

1990 ◽  
Vol 322 (5) ◽  
pp. 291-296 ◽  
Author(s):  
Wanda K. Lemna ◽  
Gerald L. Feldman ◽  
Bat-sheva Kerem ◽  
Susan D. Fernbach ◽  
Elaine P. Zevkovich ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Prenatal Diagnosis ◽  
Mutation Analysis ◽  
Heterozygote Detection

scholarly journals Mutation analysis in the F8 gene in 485 families with haemophilia A and prenatal diagnosis in China

Haemophilia ◽  
2020 ◽  
Author(s):  
Yin Feng ◽  
Qianqian Li ◽  
Panlai Shi ◽  
Ning Liu ◽  
Xiangdong Kong ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Mutation Analysis ◽  
Haemophilia A

Prenatal diagnosis in Coffin-Lowry syndrome demonstrates germinal mosaicism confirmed by mutation analysis

2001 ◽  
Vol 21 (10) ◽  
pp. 881-884 ◽  
Author(s):  
Denise Horn ◽  
Jean-Pierre Delaunoy ◽  
J�rgen Kunze
Keyword(s):  
Prenatal Diagnosis ◽  
Mutation Analysis ◽  
Germinal Mosaicism

New options for prenatal diagnosis in autosomal recessive polycystic kidney disease by mutation analysis of the PKHD1 gene

2004 ◽  
Vol 66 (1) ◽  
pp. 53-57 ◽  
Author(s):  
K Zerres ◽  
J Senderek ◽  
S Rudnik-Schöneborn ◽  
T Eggermann ◽  
J Kunze ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Kidney Disease ◽  
Polycystic Kidney Disease ◽  
Mutation Analysis ◽  
Autosomal Recessive ◽  
Polycystic Kidney

Mutation analysis for prenatal diagnosis of hereditary tyrosinaemia type 1

1997 ◽  
Vol 17 (10) ◽  
pp. 964-966 ◽  
Author(s):  
Aki Mustonen ◽  
Hans Kristian Ploos Van Amstel ◽  
Ruud Berger ◽  
Matti K. Salo ◽  
Lasse Viinikka ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Mutation Analysis ◽  
Tyrosinaemia Type ◽  
Tyrosinaemia Type 1

Prenatal diagnosis for arginase deficiency by second-trimester fetal erythrocyte arginase assay and first-trimesterARG1 mutation analysis

2004 ◽  
Vol 24 (11) ◽  
pp. 857-860 ◽  
Author(s):  
Stanley H. Korman ◽  
Alisa Gutman ◽  
Edia Stemmer ◽  
Barrie S. Kay ◽  
Ziva Ben-Neriah ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Mutation Analysis ◽  
Second Trimester ◽  
Arginase Deficiency
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