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1.
ASXL3-related disorder: Molecular phenotyping and comprehensive review providing insights into disease mechanism.
Clin Genet
; 105(5): 470-487, 2024 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-38420660
2.
Expanding the phenotype of ASXL3-related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3.
Am J Med Genet A
; 185(11): 3446-3458, 2021 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-34436830
3.
Clinical findings of 21 previously unreported probands with HNRNPU-related syndrome and comprehensive literature review.
Am J Med Genet A
; 182(7): 1637-1654, 2020 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-32319732
4.
Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotype.
Eur J Hum Genet
; 29(4): 625-636, 2021 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-33437032
5.
Atypical, milder presentation in a child with CC2D2A and KIDINS220 variants.
Clin Dysmorphol
; 29(1): 10-16, 2020 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-31577543
6.
PLS3 whole gene deletion as a cause of X-linked osteoporosis: Clinical report with review of published PLS3 literature.
Clin Dysmorphol
; 32(1): 43-47, 2023 Jan 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-36503925
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