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1.
Allelic heterogeneity in a patient with postzygotic MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities.
Clin Genet
; 105(5): 581-583, 2024 05.
Article
in English
| MEDLINE | ID: mdl-38379111
2.
Molecular consequences of PQBP1 deficiency, involved in the X-linked Renpenning syndrome.
Mol Psychiatry
; 2023 Nov 29.
Article
in English
| MEDLINE | ID: mdl-38030819
3.
Multiple molecular diagnoses in the field of intellectual disability and congenital anomalies: 3.5% of all positive cases.
J Med Genet
; 61(1): 36-46, 2023 Dec 21.
Article
in English
| MEDLINE | ID: mdl-37586840
4.
Clinical phenotype of the PIK3R1-related vascular overgrowth syndrome.
Br J Dermatol
; 2024 Apr 16.
Article
in English
| MEDLINE | ID: mdl-38623710
5.
Lessons from two series by physicians and caregivers' self-reported data in DDX3X-related disorders.
Mol Genet Genomic Med
; 12(1): e2363, 2024 Jan.
Article
in English
| MEDLINE | ID: mdl-38284452
6.
Combining globally search for a regular expression and print matching lines with bibliographic monitoring of genomic database improves diagnosis.
Front Genet
; 14: 1122985, 2023.
Article
in English
| MEDLINE | ID: mdl-37152996
7.
BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients.
Eur J Hum Genet
; 31(9): 1023-1031, 2023 09.
Article
in English
| MEDLINE | ID: mdl-37344571
8.
Systematic analysis and prediction of genes associated with monogenic disorders on human chromosome X.
Nat Commun
; 13(1): 6570, 2022 11 02.
Article
in English
| MEDLINE | ID: mdl-36323681
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