Detalhe da pesquisa
1.
Clinical and molecular features of 66 patients with musculocontractural Ehlers-Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14).
J Med Genet
; 59(9): 865-877, 2022 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-34815299
2.
Clinical and pathophysiological delineation of musculocontractural Ehlers-Danlos syndrome caused by dermatan sulfate epimerase deficiency (mcEDS-DSE): A detailed and comprehensive glycobiological and pathological investigation in a novel patient.
Hum Mutat
; 43(12): 1829-1836, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35842784
3.
Divergent variant patterns among 19 patients with Rubinstein-Taybi syndrome uncovered by comprehensive genetic analysis including whole genome sequencing.
Clin Genet
; 101(3): 335-345, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34958122
4.
Expanding the phenotypic spectrum of cardiospondylocarpofacial syndrome: From a detailed clinical and radiological observation of a boy with a novel missense variant in MAP3K7.
Am J Med Genet A
; 188(1): 350-356, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34558790
5.
Detailed clinical and radiological features of the first patient with Elsahy-Waters syndrome in East Asia.
Am J Med Genet A
; 185(12): 3909-3915, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34278706
6.
Update of the genotype and phenotype of KMT2D and KDM6A by genetic screening of 100 patients with clinically suspected Kabuki syndrome.
Am J Med Genet A
; 182(10): 2333-2344, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32803813
7.
Expansion of the phenotype of Kosaki overgrowth syndrome.
Am J Med Genet A
; 173(9): 2422-2427, 2017 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-28639748
8.
Acute lymphoblastic leukemia in a male with Simpson-Golabi-Behmel syndrome.
Am J Med Genet A
; 176(7): 1680-1682, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29737011
9.
Atypical Sotos syndrome caused by a novel splice site variant.
Hum Genome Var
; 9(1): 41, 2022 Nov 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-36379925
10.
Novel COL2A1 variants in Japanese patients with spondyloepiphyseal dysplasia congenita.
Hum Genome Var
; 9(1): 16, 2022 May 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-35581182