Detalhe da pesquisa
1.
No association between SCN9A and monogenic human epilepsy disorders.
PLoS Genet
; 16(11): e1009161, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-33216760
2.
De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders.
Am J Hum Genet
; 104(1): 139-156, 2019 01 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30595372
3.
Biallelic Mutations in MITF Cause Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness.
Am J Hum Genet
; 99(6): 1388-1394, 2016 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27889061
4.
Development of carrier testing for common inborn errors of metabolism in the Wisconsin Plain population.
Genet Med
; 19(3): 352-356, 2017 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-27513192
5.
Comparison of Methods of Initial Ascertainment in 58 Cases of Propionic Acidemia Enrolled in the Inborn Errors of Metabolism Information System Reveals Significant Differences in Time to Evaluation and Symptoms at Presentation.
J Pediatr
; 180: 200-205.e8, 2017 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27776753
6.
Thirteen new patients with guanidinoacetate methyltransferase deficiency and functional characterization of nineteen novel missense variants in the GAMT gene.
Hum Mutat
; 35(4): 462-9, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-24415674
7.
MECP2 duplication: possible cause of severe phenotype in females.
Am J Med Genet A
; 164A(4): 1029-34, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-24458799
8.
Screening for Methylmalonic and Propionic Acidemia: Clinical Outcomes and Follow-Up Recommendations.
Int J Neonatal Screen
; 8(1)2022 Feb 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35225935
9.
Rapid Transition to Telemedicine During the COVID-19 Pandemic: Medical Genetics Experience.
WMJ
; 120(3): 218-221, 2021 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-34710304
10.
Neonatal Metabolic Crises: A Practical Approach.
Clin Perinatol
; 47(1): 155-170, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32000923
11.
A Survey of Eating Attitudes and Behaviors in Adolescents and Adults With Phenylalanine Hydroxylase Deficiency.
WMJ
; 119(1): 37-43, 2020 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-32348070
12.
Long-term outcomes in Amish patients diagnosed with propionic acidemia.
Mol Genet Metab Rep
; 16: 36-38, 2018 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-30013935
13.
Successful pregnancy and delivery in a woman with propionic acidemia from the Amish community.
Mol Genet Metab Rep
; 8: 4-7, 2016 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-28649556
14.
Rhabdomyolysis in a neonate due to very long chain acyl CoA dehydrogenase deficiency.
Mol Genet Metab Rep
; 3: 39-41, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-26937394
15.
Analysis of maternal risk factors associated with congenital vertebral malformations.
Spine (Phila Pa 1976)
; 38(5): E293-8, 2013 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-23446706