Search details
1.
ITPR1: The missing gene in miosis-ataxia syndrome?
Am J Med Genet A
; : e63655, 2024 May 06.
Article
in English
| MEDLINE | ID: mdl-38711238
2.
Bi-allelic variants in WNT7B disrupt the development of multiple organs in humans.
J Med Genet
; 60(3): 294-300, 2023 03.
Article
in English
| MEDLINE | ID: mdl-35790350
3.
Structural Variant Disrupting the Expression of the Remote FOXC1 Gene in a Patient with Syndromic Complex Microphthalmia.
Int J Mol Sci
; 25(5)2024 Feb 25.
Article
in English
| MEDLINE | ID: mdl-38473917
4.
First evidence of SOX2 mutations in Peters' anomaly: Lessons from molecular screening of 95 patients.
Clin Genet
; 101(5-6): 494-506, 2022 05.
Article
in English
| MEDLINE | ID: mdl-35170016
5.
Expanding the KIF4A-associated phenotype.
Am J Med Genet A
; 185(12): 3728-3739, 2021 12.
Article
in English
| MEDLINE | ID: mdl-34346154
6.
Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome.
Am J Hum Genet
; 98(5): 971-980, 2016 May 05.
Article
in English
| MEDLINE | ID: mdl-27108797
7.
Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic Neuropathies.
Am J Hum Genet
; 97(5): 754-60, 2015 Nov 05.
Article
in English
| MEDLINE | ID: mdl-26593267
8.
Submicroscopic deletions at 13q32.1 cause congenital microcoria.
Am J Hum Genet
; 96(4): 631-9, 2015 Apr 02.
Article
in English
| MEDLINE | ID: mdl-25772937
9.
ALDH1A3 mutations cause recessive anophthalmia and microphthalmia.
Am J Hum Genet
; 92(2): 265-70, 2013 Feb 07.
Article
in English
| MEDLINE | ID: mdl-23312594
10.
TMEM126A is a mitochondrial located mRNA (MLR) protein of the mitochondrial inner membrane.
Biochim Biophys Acta
; 1830(6): 3719-33, 2013 Jun.
Article
in English
| MEDLINE | ID: mdl-23500070
11.
Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules.
Science
; 384(6694): eadf5489, 2024 Apr 26.
Article
in English
| MEDLINE | ID: mdl-38662826
12.
Impaired migration and premature differentiation underlie the neurological phenotype associated with PCDH12 loss of function.
bioRxiv
; 2023 Jan 05.
Article
in English
| MEDLINE | ID: mdl-36711630
13.
PCDH12 loss results in premature neuronal differentiation and impeded migration in a cortical organoid model.
Cell Rep
; 42(8): 112845, 2023 08 29.
Article
in English
| MEDLINE | ID: mdl-37480564
14.
TMEM126A, encoding a mitochondrial protein, is mutated in autosomal-recessive nonsyndromic optic atrophy.
Am J Hum Genet
; 84(4): 493-8, 2009 Apr.
Article
in English
| MEDLINE | ID: mdl-19327736
15.
Congenital Microcoria: Clinical Features and Molecular Genetics.
Genes (Basel)
; 12(5)2021 04 22.
Article
in English
| MEDLINE | ID: mdl-33922078
16.
Spectrum of SPATA7 mutations in Leber congenital amaurosis and delineation of the associated phenotype.
Hum Mutat
; 31(3): E1241-50, 2010 Mar.
Article
in English
| MEDLINE | ID: mdl-20104588
17.
Incomplete penetrance of biallelic ALDH1A3 mutations.
Eur J Med Genet
; 59(4): 215-8, 2016 Apr.
Article
in English
| MEDLINE | ID: mdl-26873617
18.
Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy.
Nat Genet
; 44(9): 975-7, 2012 Sep.
Article
in English
| MEDLINE | ID: mdl-22842229
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