Detalhe da pesquisa
1.
Implication of transcription factor FOXD2 dysfunction in syndromic congenital anomalies of the kidney and urinary tract (CAKUT).
Kidney Int
; 105(4): 844-864, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38154558
2.
Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy.
Hum Mutat
; 41(3): 641-654, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31769566
3.
Phenotypic expansion of POGZ-related intellectual disability syndrome (White-Sutton syndrome).
Am J Med Genet A
; 182(1): 38-52, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31782611
4.
A nonsense variant in the second exon of the canonical transcript of NSD1 does not cause Sotos syndrome.
Am J Med Genet A
; 188(1): 369-372, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34559457
5.
The expanding neurological phenotype of DNM1L-related disorders.
Brain
; 141(4): e28, 2018 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29529134
6.
Sequencing individual genomes with recurrent genomic disorder deletions: an approach to characterize genes for autosomal recessive rare disease traits.
Genome Med
; 14(1): 113, 2022 09 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-36180924
7.
De novo missense variant in the GTPase effector domain (GED) of DNM1L leads to static encephalopathy and seizures.
Cold Spring Harb Mol Case Stud
; 5(3)2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30850373