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1.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-33682303
2.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-31287223
3.
Abundance of female-biased and paucity of male-biased somatically expressed genes on the mouse X-chromosome.
BMC Genomics;
13: 607, 2012 Nov 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-23140559
4.
Multidimensional analysis and therapeutic development using patient iPSC-derived disease models of Wolfram syndrome.
JCI Insight;
7(18)2022 09 22.
Artículo
en Inglés
| MEDLINE | ID: mdl-36134655
5.
Further Delineation of the Clinical and Pathologic Features of HIKESHI-Related Hypomyelinating Leukodystrophy.
Pediatr Neurol;
121: 11-19, 2021 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-34111619
6.
Novel Y-Chromosome Long Non-Coding RNAs Expressed in Human Male CNS During Early Development.
Front Genet;
10: 891, 2019.
Artículo
en Inglés
| MEDLINE | ID: mdl-31608120
7.
A founder deletion in the TRPM1 gene associated with congenital stationary night blindness and myopia is highly prevalent in Ashkenazi Jews.
Hum Genome Var;
6: 45, 2019.
Artículo
en Inglés
| MEDLINE | ID: mdl-31645983
8.
Spatial sexual dimorphism of X and Y homolog gene expression in the human central nervous system during early male development.
Biol Sex Differ;
7: 5, 2016.
Artículo
en Inglés
| MEDLINE | ID: mdl-26759715
9.
Microarray Analysis of Copy Number Variants on the Human Y Chromosome Reveals Novel and Frequent Duplications Overrepresented in Specific Haplogroups.
PLoS One;
10(8): e0137223, 2015.
Artículo
en Inglés
| MEDLINE | ID: mdl-26322892
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