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1.
A clinical laboratory's experience using GeneMatcher-Building stronger gene-disease relationships.
Hum Mutat
; 43(6): 765-771, 2022 06.
Article
in English
| MEDLINE | ID: mdl-35181961
2.
Clinical validity assessment of genes frequently tested on intellectual disability/autism sequencing panels.
Genet Med
; 24(9): 1899-1908, 2022 09.
Article
in English
| MEDLINE | ID: mdl-35616647
3.
Reactive gene curation to support interpretation and reporting of a clinical genome test for rare disease: Experience from over 1,000 cases.
Cell Genom
; 3(2): 100258, 2023 Feb 08.
Article
in English
| MEDLINE | ID: mdl-36819666
4.
Autosomal Recessive ACTG2-Related Visceral Myopathy in Brothers.
JPGN Rep
; 3(4): e258, 2022 Nov.
Article
in English
| MEDLINE | ID: mdl-37168481
5.
Genome sequencing identifies three molecular diagnoses including a mosaic variant in the COL2A1 gene in an individual with Pol III-related leukodystrophy and Feingold syndrome.
Cold Spring Harb Mol Case Stud
; 7(6)2021 12.
Article
in English
| MEDLINE | ID: mdl-34737199
6.
A Novel Variant in SQSTM1 Gene Causing Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy in a Peruvian Family.
Mov Disord Clin Pract
; 2024 Mar 26.
Article
in English
| MEDLINE | ID: mdl-38532471
7.
A Corticothalamic Circuit for Dynamic Switching between Feature Detection and Discrimination.
Neuron
; 95(1): 180-194.e5, 2017 Jul 05.
Article
in English
| MEDLINE | ID: mdl-28625486
8.
Differential maturation of vesicular glutamate and GABA transporter expression in the mouse auditory forebrain during the first weeks of hearing.
Brain Struct Funct
; 221(5): 2619-73, 2016 06.
Article
in English
| MEDLINE | ID: mdl-26159773
9.
Caudal autotomy and regeneration in lizards.
J Exp Zool A Comp Exp Biol
; 305(12): 965-73, 2006 Dec 01.
Article
in English
| MEDLINE | ID: mdl-17068798
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