Detalhe da pesquisa
1.
Genomic analysis, immunomodulation and deep phenotyping of patients with nodding syndrome.
Brain
; 146(3): 968-976, 2023 03 01.
Artigo
Inglês
| MEDLINE | ID: mdl-36181424
2.
Cysteinyl-tRNA Synthetase Mutations Cause a Multi-System, Recessive Disease That Includes Microcephaly, Developmental Delay, and Brittle Hair and Nails.
Am J Hum Genet
; 104(3): 520-529, 2019 03 07.
Artigo
Inglês
| MEDLINE | ID: mdl-30824121
3.
Code Blue Events in the Neonatal and Pediatric Intensive Care Units at a Tertiary Care Children's Hospital.
Am J Perinatol
; 39(8): 878-882, 2022 06.
Artigo
Inglês
| MEDLINE | ID: mdl-33142339
4.
Longitudinal Positron Emission Tomography of Dopamine Synthesis in Subjects with GBA1 Mutations.
Ann Neurol
; 87(4): 652-657, 2020 04.
Artigo
Inglês
| MEDLINE | ID: mdl-32030791
5.
Adult diagnosis of congenital serine biosynthesis defect: A treatable cause of progressive neuropathy.
Am J Med Genet A
; 185(7): 2102-2107, 2021 07.
Artigo
Inglês
| MEDLINE | ID: mdl-34089226
6.
Biallelic variants in two complex I genes cause abnormal splicing defects in probands with mild Leigh syndrome.
Mol Genet Metab
; 131(1-2): 98-106, 2020.
Artigo
Inglês
| MEDLINE | ID: mdl-33097395
7.
Clinical evaluation of sibling pairs with gaucher disease discordant for parkinsonism.
Mov Disord
; 35(2): 359-365, 2020 02.
Artigo
Inglês
| MEDLINE | ID: mdl-31785030
8.
Expanding the phenotype of COPA syndrome: a kindred with typical and atypical features.
J Med Genet
; 56(11): 778-782, 2019 11.
Artigo
Inglês
| MEDLINE | ID: mdl-30385646
9.
Case report: extreme coronary calcifications and hypomagnesemia in a patient with a 17q12 deletion involving HNF1B.
BMC Nephrol
; 20(1): 353, 2019 09 09.
Artigo
Inglês
| MEDLINE | ID: mdl-31500578
10.
Peripheral nervous system manifestations of Chediak-Higashi disease.
Muscle Nerve
; 55(3): 359-365, 2017 03.
Artigo
Inglês
| MEDLINE | ID: mdl-27429304
11.
Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiency.
Genet Med
; 18(6): 608-17, 2016 06.
Artigo
Inglês
| MEDLINE | ID: mdl-26562225
12.
Treatment of hypophosphatemic rickets in generalized arterial calcification of infancy (GACI) without worsening of vascular calcification.
Am J Med Genet A
; 170A(5): 1308-11, 2016 May.
Artigo
Inglês
| MEDLINE | ID: mdl-26857895
13.
The clinical management of Type 2 Gaucher disease.
Mol Genet Metab
; 114(2): 110-122, 2015 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-25435509
14.
NT5E mutations and arterial calcifications.
N Engl J Med
; 364(5): 432-42, 2011 Feb 03.
Artigo
Inglês
| MEDLINE | ID: mdl-21288095
15.
The implications of familial incidental findings from exome sequencing: the NIH Undiagnosed Diseases Program experience.
Genet Med
; 16(10): 741-50, 2014 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-24784157
16.
End of life care in a level IV outborn neonatal intensive care unit.
J Perinatol
; 2024 Mar 14.
Artigo
Inglês
| MEDLINE | ID: mdl-38480788
17.
Parental Experiences of Genetic Testing.
Neoreviews
; 25(3): e151-e158, 2024 Mar 01.
Artigo
Inglês
| MEDLINE | ID: mdl-38425197
18.
The neurobiology of glucocerebrosidase-associated parkinsonism: a positron emission tomography study of dopamine synthesis and regional cerebral blood flow.
Brain
; 135(Pt 8): 2440-8, 2012 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-22843412
19.
The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseases.
Genet Med
; 14(1): 51-9, 2012 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-22237431
20.
Suppression of inflammation in ulcerative colitis by interferon-ß-1a is accompanied by inhibition of IL-13 production.
Gut
; 60(4): 449-55, 2011 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-20971977