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1.
Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome.
Am J Med Genet A
; 185(6): 1649-1665, 2021 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-33783954
2.
GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder.
Genet Med
; 22(5): 878-888, 2020 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-31949314
3.
Correction: GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder.
Genet Med
; 22(4): 822, 2020 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-32047287
4.
Compound Heterozygosity of Dominant and Recessive COL7A Alleles in a Severely Affected Patient with a Family History of Dystrophic Epidermolysis Bullosa: Clinical Findings, Genetic Testing, and Treatment Implications.
Pediatr Dermatol
; 34(2): 166-171, 2017 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-28297147
5.
Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome.
Genome Med
; 14(1): 62, 2022 06 13.
Artículo
en Inglés
| MEDLINE | ID: mdl-35698242
6.
Characterization of three ciliopathy pedigrees expands the phenotype associated with biallelic C2CD3 variants.
Eur J Hum Genet
; 26(12): 1797-1809, 2018 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-30097616
7.
A novel de novo frameshift deletion in EHMT1 in a patient with Kleefstra Syndrome results in decreased H3K9 dimethylation.
Mol Genet Genomic Med
; 5(2): 141-146, 2017 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-28361100
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