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Volume 54; Issue 3
Main
Journal of Medical Genetics
Volume 54; Issue 3
Journal of Medical Genetics
Volume 54; Issue 3
1
The importance of dynamic re-analysis in diagnostic whole exome sequencing
Need, Anna C
,
Shashi, Vandana
,
Schoch, Kelly
,
Petrovski, Slavé
,
Goldstein, David B
Journal:
Journal of Medical Genetics
Year:
2017
Language:
english
File:
PDF, 132 KB
Your tags:
english, 2017
2
Genetics insight into the amyotrophic lateral sclerosis/frontotemporal dementia spectrum
Ji, Ai-Ling
,
Zhang, Xia
,
Chen, Wei-Wei
,
Huang, Wen-Juan
Journal:
Journal of Medical Genetics
Year:
2017
Language:
english
File:
PDF, 502 KB
Your tags:
english, 2017
3
CEP78 is mutated in a distinct type of Usher syndrome
Fu, Qing
,
Xu, Mingchu
,
Chen, Xue
,
Sheng, Xunlun
,
Yuan, Zhisheng
,
Liu, Yani
,
Li, Huajin
,
Sun, Zixi
,
Li, Huiping
,
Yang, Lizhu
,
Wang, Keqing
,
Zhang, Fangxia
,
Li, Yumei
,
Zhao, Chen
,
Sui, Ruifang
,
Chen, Ru
Journal:
Journal of Medical Genetics
Year:
2017
Language:
english
File:
PDF, 998 KB
Your tags:
english, 2017
4
Chitayat syndrome: hyperphalangism, characteristic facies, hallux valgus and bronchomalacia results from a recurrent c.266A>G p.(Tyr89Cys) variant in the ERF gene
Balasubramanian, M
,
Lord, H
,
Levesque, S
,
Guturu, H
,
Thuriot, F
,
Sillon, G
,
Wenger, A M
,
Sureka, D L
,
Lester, T
,
Johnson, D S
,
Bowen, J
,
Calhoun, A R
,
Viskochil, D H
,
Bejerano, G
,
Bernstein, J A
,
Chit
Journal:
Journal of Medical Genetics
Year:
2017
Language:
english
File:
PDF, 794 KB
Your tags:
english, 2017
5
A de novo missense mutation of GABRB2 causes early myoclonic encephalopathy
Ishii, Atsushi
,
Kang, Jing-Qiong
,
Schornak, Cara C
,
Hernandez, Ciria C
,
Shen, Wangzhen
,
Watkins, Joseph C
,
Macdonald, Robert L
,
Hirose, Shinichi
Journal:
Journal of Medical Genetics
Year:
2017
Language:
english
File:
PDF, 5.62 MB
Your tags:
english, 2017
6
A novel somatic mutation achieves partial rescue in a child with Hutchinson-Gilford progeria syndrome
Bar, Daniel Z
,
Arlt, Martin F
,
Brazier, Joan F
,
Norris, Wendy E
,
Campbell, Susan E
,
Chines, Peter
,
Larrieu, Delphine
,
Jackson, Stephen P
,
Collins, Francis S
,
Glover, Thomas W
,
Gordon, Leslie B
Journal:
Journal of Medical Genetics
Year:
2017
Language:
english
File:
PDF, 1.11 MB
Your tags:
english, 2017
7
A novel TRAPPC11 mutation in two Turkish families associated with cerebral atrophy, global retardation, scoliosis, achalasia and alacrima
Koehler, Katrin
,
Milev, Miroslav P.
,
Prematilake, Keshika
,
Reschke, Felix
,
Kutzner, Susann
,
Jühlen, Ramona
,
Landgraf, Dana
,
Utine, Eda
,
Hazan, Filiz
,
Diniz, Gulden
,
Schuelke, Markus
,
Huebner, Angela
,
Journal:
Journal of Medical Genetics
Year:
2017
Language:
english
File:
PDF, 1.77 MB
Your tags:
english, 2017
8
Recessive progressive symmetric erythrokeratoderma results from a homozygous loss-of-function mutation of KRT83 and is allelic with dominant monilethrix
Shah, Khadim
,
Ansar, Muhammad
,
Mughal, Zaib-un-Nisa
,
Khan, Falak Sher
,
Ahmad, Wasim
,
Ferrara, Tracey M
,
Spritz, Richard A
Journal:
Journal of Medical Genetics
Year:
2017
Language:
english
File:
PDF, 493 KB
Your tags:
english, 2017
9
Mutations in the phosphatidylinositol glycan C ( PIGC ) gene are associated with epilepsy and intellectual disability
Edvardson, Simon
,
Murakami, Yoshiko
,
Nguyen, Thi Tuyet Mai
,
Shahrour, Maher
,
St-Denis, Anik
,
Shaag, Avraham
,
Damseh, Nadira
,
Le Deist, Françoise
,
Bryceson, Yenan
,
Abu-Libdeh, Bassam
,
Campeau, Philippe
Journal:
Journal of Medical Genetics
Year:
2017
Language:
english
File:
PDF, 1.17 MB
Your tags:
english, 2017
10
Carriers of a VEGFA enhancer polymorphism selectively binding CHOP/DDIT3 are predisposed to increased circulating levels of thyroid-stimulating hormone
Ahluwalia, Tarunveer Singh
,
Troelsen, Jesper Thorvald
,
Balslev-Harder, Marie
,
Bork-Jensen, Jette
,
Thuesen, Betina Heinsbæk
,
Cerqueira, Charlotte
,
Linneberg, Allan
,
Grarup, Niels
,
Pedersen, Oluf
,
Hanse
Journal:
Journal of Medical Genetics
Year:
2017
Language:
english
File:
PDF, 1.44 MB
Your tags:
english, 2017
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