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1.
Missense variants in ANO4 cause sporadic encephalopathic or familial epilepsy with evidence for a dominant-negative effect.
Am J Hum Genet
; 2024 May 10.
Article
in English
| MEDLINE | ID: mdl-38744284
2.
Identification of novel compound heterozygous variants in the SLC30A7 (ZNT7) gene in two French brothers with stunted growth, testicular hypoplasia and bone marrow failure.
Hum Mol Genet
; 32(12): 2016-2031, 2023 06 05.
Article
in English
| MEDLINE | ID: mdl-36821639
3.
Bi-allelic variants in DOHH, catalyzing the last step of hypusine biosynthesis, are associated with a neurodevelopmental disorder.
Am J Hum Genet
; 109(8): 1549-1558, 2022 08 04.
Article
in English
| MEDLINE | ID: mdl-35858628
4.
Myoclonic dystonia phenotype related to a novel calmodulin-binding transcription activator 1 sequence variant.
Neurogenetics
; 22(2): 137-141, 2021 05.
Article
in English
| MEDLINE | ID: mdl-33677721
5.
ZNF668 deficiency causes a recognizable disorder of DNA damage repair.
Hum Genet
; 140(9): 1395-1401, 2021 Sep.
Article
in English
| MEDLINE | ID: mdl-34313816
6.
Clinical and molecular delineation of PUS3-associated neurodevelopmental disorders.
Clin Genet
; 100(5): 628-633, 2021 11.
Article
in English
| MEDLINE | ID: mdl-34415064
7.
Gain-of-function variants in the KDF1 gene cause hidradenitis suppurativa associated with ectodermal dysplasia by stabilizing IκB kinase α.
Br J Dermatol
; 189(1): 131-132, 2023 07 07.
Article
in English
| MEDLINE | ID: mdl-37144643
8.
Correction to: Myoclonic dystonia phenotype related to a novel calmodulin-binding transcription activator 1 sequence variant.
Neurogenetics
; 23(1): 77, 2022 Jan.
Article
in English
| MEDLINE | ID: mdl-34859314
9.
Two New Cases of Bachmann-Bupp Syndrome Identified through the International Center for Polyamine Disorders.
Med Sci (Basel)
; 11(2)2023 04 04.
Article
in English
| MEDLINE | ID: mdl-37092498
10.
Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage-Sensing and Pore Domains of KCNH5.
Neurology
; 100(6): e603-e615, 2023 02 07.
Article
in English
| MEDLINE | ID: mdl-36307226
11.
The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant.
Eur J Hum Genet
; 31(4): 461-468, 2023 04.
Article
in English
| MEDLINE | ID: mdl-36747006
12.
Prenatal diagnosis by trio exome sequencing in fetuses with ultrasound anomalies: A powerful diagnostic tool.
Front Genet
; 14: 1099995, 2023.
Article
in English
| MEDLINE | ID: mdl-37035737
13.
Neuropsychological Features of Children and Adolescents With Mitochondrial Disorders: A Descriptive Case Series.
Front Psychiatry
; 13: 864445, 2022.
Article
in English
| MEDLINE | ID: mdl-35463509
14.
Accelerated genome sequencing with controlled costs for infants in intensive care units: a feasibility study in a French hospital network.
Eur J Hum Genet
; 30(5): 567-576, 2022 05.
Article
in English
| MEDLINE | ID: mdl-34782754
15.
Psychiatric Symptoms of Children and Adolescents With Mitochondrial Disorders: A Descriptive Case Series.
Front Psychiatry
; 12: 685532, 2021.
Article
in English
| MEDLINE | ID: mdl-34354612
16.
Neuropsychological and Psychiatric Features of Children and Adolescents Affected With Mitochondrial Diseases: A Systematic Review.
Front Psychiatry
; 11: 747, 2020.
Article
in English
| MEDLINE | ID: mdl-32848925
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