Detalhe da pesquisa
1.
Mono-allelic KCNB2 variants lead to a neurodevelopmental syndrome caused by altered channel inactivation.
Am J Hum Genet
; 111(4): 761-777, 2024 Apr 04.
Artigo
Inglês
| MEDLINE | ID: mdl-38503299
2.
POLR1A variants underlie phenotypic heterogeneity in craniofacial, neural, and cardiac anomalies.
Am J Hum Genet
; 110(5): 809-825, 2023 05 04.
Artigo
Inglês
| MEDLINE | ID: mdl-37075751
3.
Macrocephaly and developmental delay caused by missense variants in RAB5C.
Hum Mol Genet
; 32(21): 3063-3077, 2023 10 17.
Artigo
Inglês
| MEDLINE | ID: mdl-37552066
4.
X-linked variations in SHROOM4 are implicated in congenital anomalies of the urinary tract and the anorectal, cardiovascular and central nervous systems.
J Med Genet
; 60(6): 587-596, 2023 06.
Artigo
Inglês
| MEDLINE | ID: mdl-36379543
5.
Insurance denials and diagnostic rates in a pediatric genomic research cohort.
Genet Med
; 25(5): 100020, 2023 05.
Artigo
Inglês
| MEDLINE | ID: mdl-36718845
6.
Robin sequence without cleft palate: Genetic diagnoses and management implications.
Am J Med Genet A
; 188(1): 160-177, 2022 01.
Artigo
Inglês
| MEDLINE | ID: mdl-34569146
7.
PPP2R1A neurodevelopmental disorder is associated with congenital heart defects.
Am J Med Genet A
; 188(11): 3262-3277, 2022 11.
Artigo
Inglês
| MEDLINE | ID: mdl-36209351
8.
Mandibulofacial dysostosis with microcephaly: An expansion of the phenotype via parental survey.
Am J Med Genet A
; 185(2): 413-423, 2021 02.
Artigo
Inglês
| MEDLINE | ID: mdl-33247512
9.
Responsiveness of sphingosine phosphate lyase insufficiency syndrome to vitamin B6 cofactor supplementation.
J Inherit Metab Dis
; 43(5): 1131-1142, 2020 09.
Artigo
Inglês
| MEDLINE | ID: mdl-32233035
10.
Chronic Pain and Associated Factors in India and Nepal: A Pilot Study of the Vanderbilt Global Pain Survey.
Anesth Analg
; 125(5): 1616-1626, 2017 11.
Artigo
Inglês
| MEDLINE | ID: mdl-28806206
11.
Notes from the Field: Measles Outbreaks from Imported Cases in Orthodox Jewish Communities - New York and New Jersey, 2018-2019.
MMWR Morb Mortal Wkly Rep
; 68(19): 444-445, 2019 May 17.
Artigo
Inglês
| MEDLINE | ID: mdl-31095533
12.
Second patient with GNB2-related neurodevelopmental disease: Further evidence for a gene-disease association.
Eur J Med Genet
; 64(7): 104243, 2021 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-33971351
13.
Impaired eIF5A function causes a Mendelian disorder that is partially rescued in model systems by spermidine.
Nat Commun
; 12(1): 833, 2021 02 05.
Artigo
Inglês
| MEDLINE | ID: mdl-33547280
14.
Considering culture in Aboriginal care.
CMAJ
; 185(1): E27-8, 2013 Jan 08.
Artigo
Inglês
| MEDLINE | ID: mdl-23251019
15.
Hospital mortality rates continue to drop.
CMAJ
; 185(2): E87-8, 2013 Feb 05.
Artigo
Inglês
| MEDLINE | ID: mdl-23251025
16.
Beyond BlackBerry thumb.
CMAJ
; 185(4): E185-6, 2013 Mar 05.
Artigo
Inglês
| MEDLINE | ID: mdl-23382255
17.
Motivational, proteostatic and transcriptional deficits precede synapse loss, gliosis and neurodegeneration in the B6.HttQ111/+ model of Huntington's disease.
Sci Rep
; 7: 41570, 2017 02 08.
Artigo
Inglês
| MEDLINE | ID: mdl-28176805
18.
Whole exome sequencing reveals EP300 mutation in mildly affected female: expansion of the spectrum.
Clin Case Rep
; 4(7): 696-8, 2016 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-27386132
19.
Corrigendum: Motivational, proteostatic and transcriptional deficits precede synapse loss, gliosis and neurodegeneration in the B6.HttQ111/+ model of Huntington's disease.
Sci Rep
; 7: 44960, 2017 03 28.
Artigo
Inglês
| MEDLINE | ID: mdl-28350386
20.
The effect of pesticide spraying on the rate and severity of ED asthma.
Am J Emerg Med
; 23(4): 463-7, 2005 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-16032612