Search details
1.
ARF1-related disorder: phenotypic and molecular spectrum.
J Med Genet
; 60(10): 999-1005, 2023 10.
Article
in English
| MEDLINE | ID: mdl-37185208
2.
Novel Approach to Improve the Identification of the Bleeding Phenotype in Noonan Syndrome and Related RASopathies.
J Pediatr
; 257: 113323, 2023 06.
Article
in English
| MEDLINE | ID: mdl-36646249
3.
Further delineation of the CWC27-associated spliceosomeopathy: Case report and review of the literature.
Am J Med Genet A
; 191(5): 1378-1383, 2023 05.
Article
in English
| MEDLINE | ID: mdl-36718996
4.
Consolidation of the clinical and genetic definition of a SOX4-related neurodevelopmental syndrome.
J Med Genet
; 59(11): 1058-1068, 2022 11.
Article
in English
| MEDLINE | ID: mdl-35232796
5.
Expanding the phenotypic and molecular spectrum of NFS1-related disorders that cause functional deficiencies in mitochondrial and cytosolic iron-sulfur cluster containing enzymes.
Hum Mutat
; 43(3): 305-315, 2022 03.
Article
in English
| MEDLINE | ID: mdl-35026043
6.
A Randomized, Controlled Trial of the Analytic and Diagnostic Performance of Singleton and Trio, Rapid Genome and Exome Sequencing in Ill Infants.
Am J Hum Genet
; 105(4): 719-733, 2019 10 03.
Article
in English
| MEDLINE | ID: mdl-31564432
7.
Genotype-phenotype correlation at codon 1740 of SETD2.
Am J Med Genet A
; 182(9): 2037-2048, 2020 09.
Article
in English
| MEDLINE | ID: mdl-32710489
8.
Rapid Sequencing-Based Diagnosis of Thiamine Metabolism Dysfunction Syndrome.
N Engl J Med
; 384(22): 2159-2161, 2021 06 03.
Article
in English
| MEDLINE | ID: mdl-34077649
9.
Pre-pregnancy exposure to diesel exhaust predisposes offspring to asthma through IL-1ß and IL-17A.
J Allergy Clin Immunol
; 141(3): 1118-1122.e3, 2018 03.
Article
in English
| MEDLINE | ID: mdl-28943469
10.
ARF1 prevents aberrant type I interferon induction by regulating STING activation and recycling.
Nat Commun
; 14(1): 6770, 2023 11 01.
Article
in English
| MEDLINE | ID: mdl-37914730
11.
Autosomal Recessive Cerebellar Atrophy and Spastic Ataxia in Patients With Pathogenic Biallelic Variants in GEMIN5.
Front Cell Dev Biol
; 10: 783762, 2022.
Article
in English
| MEDLINE | ID: mdl-35295849
12.
An automated 13.5 hour system for scalable diagnosis and acute management guidance for genetic diseases.
Nat Commun
; 13(1): 4057, 2022 07 26.
Article
in English
| MEDLINE | ID: mdl-35882841
13.
Postmortem whole-genome sequencing on a dried blood spot identifies a novel homozygous SUOX variant causing isolated sulfite oxidase deficiency.
Cold Spring Harb Mol Case Stud
; 7(3)2021 06.
Article
in English
| MEDLINE | ID: mdl-34117075
14.
Expanding the genotypic spectrum of ACTG2-related visceral myopathy.
Cold Spring Harb Mol Case Stud
; 7(3)2021 06.
Article
in English
| MEDLINE | ID: mdl-33883208
15.
Maternal diesel particle exposure promotes offspring asthma through NK cell-derived granzyme B.
J Clin Invest
; 130(8): 4133-4151, 2020 08 03.
Article
in English
| MEDLINE | ID: mdl-32407293
16.
Whole-exome sequencing reveals novel USP9X variant in female fetus with isolated agenesis of the corpus callosum.
Clin Case Rep
; 7(4): 656-660, 2019 Apr.
Article
in English
| MEDLINE | ID: mdl-30997057
17.
Brief introduction of current technologies in isolation of broadly neutralizing HIV-1 antibodies.
Virus Res
; 243: 75-82, 2018 01 02.
Article
in English
| MEDLINE | ID: mdl-29051051
18.
2,3,7,8-tetrachlorodibenzo-p-dioxin slows the progression of experimental cutaneous Leishmaniasis in susceptible BALB/c and SCID mice.
PLoS One
; 8(10): e76259, 2013.
Article
in English
| MEDLINE | ID: mdl-24098456
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