Detalhe da pesquisa
1.
Suleiman-El-Hattab syndrome: a histone modification disorder caused by TASP1 deficiency.
Hum Mol Genet
; 31(18): 3083-3094, 2022 09 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35512351
2.
Biallelic variants in CRIPT cause a Rothmund-Thomson-like syndrome with increased cellular senescence.
Genet Med
; 25(7): 100836, 2023 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-37013901
3.
Asthma and anxiety in children and adolescents: characteristics and treatment outcomes.
J Asthma
; : 1-9, 2023 Nov 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37930754
4.
Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder.
Genet Med
; 23(2): 384-395, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33173220
5.
Investigation of a dysmorphic facial phenotype in patients with Gaucher disease types 2 and 3.
Mol Genet Metab
; 134(3): 274-280, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34663554
6.
Growth, development, and phenotypic spectrum of individuals with deletions of 2q33.1 involving SATB2.
Clin Genet
; 99(4): 547-557, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33381861
7.
Craniofacial features of 3q29 deletion syndrome: Application of next-generation phenotyping technology.
Am J Med Genet A
; 185(7): 2094-2101, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33938623
8.
Differentiating molecular etiologies of Angelman syndrome through facial phenotyping using deep learning.
Am J Med Genet A
; 182(9): 2021-2026, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32524756
9.
A novel patient with White-Sutton syndrome refines the mutational and clinical repertoire of the POGZ-related phenotype and suggests further observations.
Am J Med Genet A
; 182(7): 1791-1795, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32359026
10.
Rubinstein-Taybi syndrome in diverse populations.
Am J Med Genet A
; 182(12): 2939-2950, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32985117
11.
Turner syndrome in diverse populations.
Am J Med Genet A
; 182(2): 303-313, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31854143
12.
NBAS pathogenic variants: Defining the associated clinical and facial phenotype and genotype-phenotype correlations.
Hum Mutat
; 40(6): 721-728, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30825388
13.
PEDIA: prioritization of exome data by image analysis.
Genet Med
; 21(12): 2807-2814, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31164752
14.
The facial dysmorphology analysis technology in intellectual disability syndromes related to defects in the histones modifiers.
J Hum Genet
; 64(8): 721-728, 2019 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-31086247
15.
Phenotype delineation of ZNF462 related syndrome.
Am J Med Genet A
; 179(10): 2075-2082, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31361404
16.
Advances in computer-assisted syndrome recognition by the example of inborn errors of metabolism.
J Inherit Metab Dis
; 41(3): 533-539, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29623569
17.
Further delineation of the neurodevelopmental phenotypic spectrum associated to 14q11.2 microduplication.
Neurol Sci
; 41(12): 3751-3753, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32529320
18.
Arab, Middle Eastern, and North African Health Disparities Research: A Scoping Review.
J Racial Ethn Health Disparities
; 2024 Mar 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-38466512
19.
Vici syndrome in Israel: Clinical and molecular insights.
Front Genet
; 13: 991721, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36204321
20.
De novo variants of CSNK2B cause a new intellectual disability-craniodigital syndrome by disrupting the canonical Wnt signaling pathway.
HGG Adv
; 3(3): 100111, 2022 Jul 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-35571680