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1.
Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities.
Genet Med
; 25(1): 135-142, 2023 01.
Article
in English
| MEDLINE | ID: mdl-36399134
2.
Neutropenia and intellectual disability are hallmarks of biallelic and de novo CLPB deficiency.
Genet Med
; 23(9): 1705-1714, 2021 09.
Article
in English
| MEDLINE | ID: mdl-34140661
3.
Low-level mosaicism in tuberous sclerosis complex in four unrelated patients: Comparison of clinical characteristics and diagnostic pathways.
Am J Med Genet A
; 185(12): 3851-3858, 2021 12.
Article
in English
| MEDLINE | ID: mdl-34328706
4.
Correction to: Neutropenia and intellectual disability are hallmarks of biallelic and de novo CLPB deficiency.
Genet Med
; 23(9): 1789, 2021 Sep.
Article
in English
| MEDLINE | ID: mdl-34302123
5.
Biallelic Cys141Tyr variant of SEL1L is associated with neurodevelopmental disorders, agammaglobulinemia, and premature death.
J Clin Invest
; 134(2)2024 Jan 16.
Article
in English
| MEDLINE | ID: mdl-37943617
6.
Prognostic Value of Genotype-Phenotype Correlations in X-Linked Myotubular Myopathy and the Use of the Face2Gene Application as an Effective Non-Invasive Diagnostic Tool.
Genes (Basel)
; 14(12)2023 Dec 03.
Article
in English
| MEDLINE | ID: mdl-38136996
7.
CUX1-related neurodevelopmental disorder: deep insights into phenotype-genotype spectrum and underlying pathology.
Eur J Hum Genet
; 31(11): 1251-1260, 2023 11.
Article
in English
| MEDLINE | ID: mdl-37644171
8.
Singleton exome sequencing of 90 fetuses with ultrasound anomalies revealing novel disease-causing variants and genotype-phenotype correlations.
Eur J Hum Genet
; 30(4): 428-438, 2022 04.
Article
in English
| MEDLINE | ID: mdl-34974531
9.
Genotype-Phenotype Comparison in POGZ-Related Neurodevelopmental Disorders by Using Clinical Scoring.
Genes (Basel)
; 13(1)2022 01 15.
Article
in English
| MEDLINE | ID: mdl-35052493
10.
Case Report and Review of the Literature: A New and a Recurrent Variant in the VARS2 Gene Are Associated With Isolated Lethal Hypertrophic Cardiomyopathy, Hyperlactatemia, and Pulmonary Hypertension in Early Infancy.
Front Pediatr
; 9: 660076, 2021.
Article
in English
| MEDLINE | ID: mdl-33937156
11.
Ultra-conserved non-coding sequences within the FOXF1 enhancer are critical for human lung development.
Genes Dis
; 9(6): 1423-1426, 2022 Nov.
Article
in English
| MEDLINE | ID: mdl-36157490
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