Detalhe da pesquisa
1.
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.
Am J Hum Genet
; 111(1): 96-118, 2024 Jan 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38181735
2.
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.
Am J Hum Genet
; 111(4): 805, 2024 Apr 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38508193
3.
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.
Am J Hum Genet
; 2024 May 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-38723631
4.
A novel approach in pediatric telegenetic services: geneticist, pediatrician and genetic counselor team.
Genet Med
; 19(11): 1260-1267, 2017 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-28471436
5.
Alu-mediated deletion of PIGL in a Patient with CHIME syndrome.
Am J Med Genet A
; 173(5): 1378-1382, 2017 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-28371479
6.
What is the role of clinical genetics in the patient-centered medical home?: A commentary from the Medical Home Workgroup of the Heartland Regional Genetics and Newborn Screening Collaborative.
Genet Med
; 18(5): 440-2, 2016 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-26291599
7.
McArdle Disease Presenting With Muscle Pain in a Teenage Girl: The Role of Whole-Exome Sequencing in Neurogenetic Disorders.
Semin Pediatr Neurol
; 26: 50-51, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29961518
8.
A newborn with complex skeletal abnormalities, joint contractures, and bilateral corneal clouding with sclerocornea.
Semin Pediatr Neurol
; 21(2): 84-7, 2014 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25149931
9.
Editorial comment: An unusual cause of peroneal neuropathy.
Semin Pediatr Neurol
; 21(2): 82-3, 2014 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25149930