Detalhe da pesquisa
1.
Clinical and functional characterization of germline PIK3CA variants in patients with PIK3CA-related overgrowth spectrum disorders.
Hum Mol Genet
; 32(9): 1457-1465, 2023 04 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-36458889
2.
Functional assessment of homozygous ALDH18A1 variants reveals alterations in amino acid and antioxidant metabolism.
Hum Mol Genet
; 32(5): 732-744, 2023 02 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-36067040
3.
SEMA6B variants cause intellectual disability and alter dendritic spine density and axon guidance.
Hum Mol Genet
; 31(19): 3325-3340, 2022 09 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-35604360
4.
Parental concerns about genital differences in children with congenital adrenal hyperplasia persist regardless of the selected intervention.
J Sex Med
; 21(5): 361-366, 2024 Apr 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-38481013
5.
De Novo Variants in LMNB1 Cause Pronounced Syndromic Microcephaly and Disruption of Nuclear Envelope Integrity.
Am J Hum Genet
; 107(4): 753-762, 2020 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32910914
6.
Structural model of human PORCN illuminates disease-associated variants and drug-binding sites.
J Cell Sci
; 134(24)2021 12 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-34817055
7.
What is available to support pain management in Parkinson's: a scoping review protocol.
Int J Equity Health
; 22(1): 244, 2023 Nov 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-37993895
8.
Redefining the Etiologic Landscape of Cerebellar Malformations.
Am J Hum Genet
; 105(3): 606-615, 2019 09 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31474318
9.
Mosaicism of common pathogenic MECP2 variants identified in two males with a clinical diagnosis of Rett syndrome.
Am J Med Genet A
; 188(10): 2988-2998, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35924478
10.
Fortification of grain foods and NOVA: the potential for altered nutrient intakes while avoiding ultra-processed foods.
Eur J Nutr
; 61(2): 935-945, 2022 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-34668030
11.
A neurodevelopmental disorder caused by mutations in the VPS51 subunit of the GARP and EARP complexes.
Hum Mol Genet
; 28(9): 1548-1560, 2019 05 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30624672
12.
Mutations in PIGS, Encoding a GPI Transamidase, Cause a Neurological Syndrome Ranging from Fetal Akinesia to Epileptic Encephalopathy.
Am J Hum Genet
; 103(4): 602-611, 2018 10 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30269814
13.
Expanding the clinical and metabolic phenotype of DPM2 deficient congenital disorders of glycosylation.
Mol Genet Metab
; 132(1): 27-37, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33129689
14.
BAZ2B haploinsufficiency as a cause of developmental delay, intellectual disability, and autism spectrum disorder.
Hum Mutat
; 41(5): 921-925, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31999386
15.
Xq22 deletions and correlation with distinct neurological disease traits in females: Further evidence for a contiguous gene syndrome.
Hum Mutat
; 41(1): 150-168, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31448840
16.
Two novel cases further expand the phenotype of TOR1AIP1-associated nuclear envelopathies.
Hum Genet
; 139(4): 483-498, 2020 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-32055997
17.
RAC1 Missense Mutations in Developmental Disorders with Diverse Phenotypes.
Am J Hum Genet
; 101(3): 466-477, 2017 Sep 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28886345
18.
Whole-Genome and Segmental Homozygosity Confirm Errors in Meiosis as Etiology of Struma Ovarii.
Cytogenet Genome Res
; 160(1): 2-10, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-31865307
19.
Fatal hyperkeratosis syndrome in four siblings due to dolichol kinase deficiency.
Am J Med Genet A
; 182(6): 1421-1425, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32250540
20.
Prominent role of forebrain excitatory neurons in SCN8A encephalopathy.
Brain
; 142(2): 362-375, 2019 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30601941