Detalhe da pesquisa
1.
TMX2 Is a Crucial Regulator of Cellular Redox State, and Its Dysfunction Causes Severe Brain Developmental Abnormalities.
Am J Hum Genet
; 105(6): 1126-1147, 2019 12 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31735293
2.
Rare pathogenic variants in WNK3 cause X-linked intellectual disability.
Genet Med
; 24(9): 1941-1951, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35678782
3.
Expanding the neurodevelopmental phenotype of PURA syndrome.
Am J Med Genet A
; 176(1): 56-67, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29150892
4.
Impaired dentin mineralization, supernumerary teeth, hypoplastic mandibular condyles with long condylar necks, and a TRPS1 mutation.
Arch Oral Biol
; 116: 104735, 2020 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-32442662
5.
De novo variants in HK1 associated with neurodevelopmental abnormalities and visual impairment.
Eur J Hum Genet
; 27(7): 1081-1089, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30778173
6.
Recognizing and Managing Children with a Pediatric Cancer Predisposition Syndrome: A Guide for the Pediatrician.
Pediatr Ann
; 47(5): e204-e216, 2018 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29750288