Detalhe da pesquisa
1.
De Novo KAT5 Variants Cause a Syndrome with Recognizable Facial Dysmorphisms, Cerebellar Atrophy, Sleep Disturbance, and Epilepsy.
Am J Hum Genet
; 107(3): 564-574, 2020 09 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32822602
2.
TELO2-related syndrome (You-Hoover-Fong syndrome): Description of 14 new affected individuals and review of the literature.
Am J Med Genet A
; 191(5): 1261-1272, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36797513
3.
WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome.
Am J Hum Genet
; 102(1): 27-43, 2018 01 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29276006
4.
Mobile element insertion detection in 89,874 clinical exomes.
Genet Med
; 22(5): 974-978, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31965078
5.
Missense variants in the chromatin remodeler CHD1 are associated with neurodevelopmental disability.
J Med Genet
; 55(8): 561-566, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-28866611
6.
The Exome Clinic and the role of medical genetics expertise in the interpretation of exome sequencing results.
Genet Med
; 19(9): 1040-1048, 2017 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-28252636
7.
The spectrum of DNMT3A variants in Tatton-Brown-Rahman syndrome overlaps with that in hematologic malignancies.
Am J Med Genet A
; 173(11): 3022-3028, 2017 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-28941052
8.
Multi-systemic involvement in NGLY1-related disorder caused by two novel mutations.
Am J Med Genet A
; 167A(4): 816-20, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25707956
9.
Best Practices for Virtual Care: A Consensus Statement From the Canadian Rheumatology Association.
J Rheumatol
; 49(4): 408-418, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35105707
10.
Clinical and genetic characterization of individuals with predicted deleterious PHIP variants.
Cold Spring Harb Mol Case Stud
; 5(4)2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31167805
11.
Risk association of congenital anomalies in patients with ambiguous genitalia: A 22-year single-center experience.
J Pediatr Urol
; 14(2): 153.e1-153.e7, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29157626
12.
Integrated small copy number variations and epigenome maps of disorders of sex development.
Hum Genome Var
; 3: 16012, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27340555
13.
TRAIL and KILLER are expressed and induce apoptosis in the murine preimplantation embryo.
Biol Reprod
; 71(3): 871-7, 2004 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-15128592