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1.
Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss.
Am J Hum Genet
; 108(10): 2006-2016, 2021 10 07.
Article
in English
| MEDLINE | ID: mdl-34626583
2.
Severe epileptic encephalopathy associated with compound heterozygosity of THG1L variants in the Ashkenazi Jewish population.
Am J Med Genet A
; 185(5): 1589-1597, 2021 05.
Article
in English
| MEDLINE | ID: mdl-33682303
3.
Study of carrier frequency of Warsaw breakage syndrome in the Ashkenazi Jewish population and presentation of two cases.
Am J Med Genet A
; 179(10): 2144-2151, 2019 10.
Article
in English
| MEDLINE | ID: mdl-31287223
4.
Joubert syndrome 2 (JBTS2) in Ashkenazi Jews is associated with a TMEM216 mutation.
Am J Hum Genet
; 86(1): 93-7, 2010 Jan.
Article
in English
| MEDLINE | ID: mdl-20036350
5.
Multidimensional analysis and therapeutic development using patient iPSC-derived disease models of Wolfram syndrome.
JCI Insight
; 7(18)2022 09 22.
Article
in English
| MEDLINE | ID: mdl-36134655
6.
A newly identified mutation in the PEX26 gene is associated with a milder form of Zellweger spectrum disorder.
Cold Spring Harb Mol Case Stud
; 5(1)2019 02.
Article
in English
| MEDLINE | ID: mdl-30446579
7.
VAC14 syndrome in two siblings with retinitis pigmentosa and neurodegeneration with brain iron accumulation.
Cold Spring Harb Mol Case Stud
; 5(6)2019 12.
Article
in English
| MEDLINE | ID: mdl-31387860
8.
Breath sound distribution images of patients with pneumonia and pleural effusion.
Respir Care
; 52(12): 1753-60, 2007 Dec.
Article
in English
| MEDLINE | ID: mdl-18028567
9.
The frequency of mucolipidosis type IV in the Ashkenazi Jewish population and the identification of 3 novel MCOLN1 mutations.
Hum Mutat
; 26(6): 591, 2005 Dec.
Article
in English
| MEDLINE | ID: mdl-16287144
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