scholarly journals A Japanese familial case of hypochondroplasia with a novel mutation in FGFR3

2016 ◽  
Vol 25 (3) ◽  
pp. 103-106 ◽  
Author(s):  
Keiko Nagahara ◽  
Yuki Harada ◽  
Tohru Futami ◽  
Masaki Takagi ◽  
Gen Nishimura ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Familial Case

scholarly journals A Japanese familial case of Schmid metaphyseal chondrodysplasia with a novel mutation in COL10A1

2016 ◽  
Vol 25 (3) ◽  
pp. 107-110 ◽  
Author(s):  
Shinji Higuchi ◽  
Masaki Takagi ◽  
Satoshi Shimomura ◽  
Gen Nishimura ◽  
Yukihiro Hasegawa
Keyword(s):  
Novel Mutation ◽  
Familial Case ◽  
Metaphyseal Chondrodysplasia

A new familial case of Jalili syndrome caused by a novel mutation in CNNM4

2016 ◽  
Vol 38 (2) ◽  
pp. 161-166 ◽  
Author(s):  
Vehap Topçu ◽  
Muhammed Yunus Alp ◽  
Cemile Kedici Alp ◽  
Abdullatif Bakır ◽  
Dilay Geylan ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Familial Case

The first Japanese familial case of spinocerebellar ataxia 23 with a novel mutation in the PDYN gene

2015 ◽  
Vol 21 (3) ◽  
pp. 332-334 ◽  
Author(s):  
Kazumasa Saigoh ◽  
Jun Mitsui ◽  
Makito Hirano ◽  
Mitsuaki Shioyama ◽  
Makoto Samukawa ◽  
...  
Keyword(s):  
Spinocerebellar Ataxia ◽  
Novel Mutation ◽  
Familial Case

Autofluorescence in female carriers with choroideremia: A familial case with a novel mutation in the CHM gene

2020 ◽  
Vol 41 (6) ◽  
pp. 625-628
Author(s):  
Grecia Yael Ortiz-Ramirez ◽  
Cristina Villanueva-Mendoza ◽  
Juan Carlos Zenteno Ruiz ◽  
Mariana Reyes ◽  
Vianney Cortés-González
Keyword(s):  
Novel Mutation ◽  
Familial Case ◽  
Female Carriers

scholarly journals A familial case of pseudohypoaldosteronism type II (PHA2) with a novel mutation (D564N) in the acidic motif in WNK4

2019 ◽  
Vol 7 (6) ◽  
Author(s):  
Takashi Sakoh ◽  
Akinari Sekine ◽  
Takayasu Mori ◽  
Hiroki Mizuno ◽  
Masahiro Kawada ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Familial Case ◽  
Type Ii ◽  
Pseudohypoaldosteronism Type Ii ◽  
Pseudohypoaldosteronism Type

A novel mutation in the cleavage site N291 of TDP-43 protein in a familial case of amyotrophic lateral sclerosis

2020 ◽  
Vol 21 (5-6) ◽  
pp. 463-466
Author(s):  
Anna A. Chami ◽  
Stéphane Beltran ◽  
Philippe Corcia ◽  
Christian R. Andres ◽  
Frédéric Laumonnier ◽  
...  
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Cleavage Site ◽  
Novel Mutation ◽  
Familial Case ◽  
Lateral Sclerosis

Pseudoatrophoderma colli. A familial case

1980 ◽  
Vol 116 (10) ◽  
pp. 1181-1182 ◽  
Author(s):  
Y. C. Kauh
Keyword(s):  
Familial Case
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