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1.
A novel nonsense PKD1L1 variant cause heterotaxy syndrome with congenital asplenia in a Han Chinese patient.
J Hum Genet
; 67(10): 573-577, 2022 Oct.
Article
in English
| MEDLINE | ID: mdl-35691949
2.
A novel POF1B variant in a Chinese patient is associated with premature ovarian failure.
Clin Genet
; 100(6): 773-774, 2021 12.
Article
in English
| MEDLINE | ID: mdl-34423420
3.
Exome sequencing identifies a novel nonsense mutation of Ring Finger Protein 207 in a Chinese family with Long QT syndrome and syncope.
J Hum Genet
; 64(3): 233-238, 2019 Mar.
Article
in English
| MEDLINE | ID: mdl-30542207
4.
Identification of a pathogenic SMCHD1 variant in a Chinese patient with bosma arhinia microphthalmia syndrome: a case report.
BMC Med Genomics
; 17(1): 136, 2024 May 21.
Article
in English
| MEDLINE | ID: mdl-38773541
5.
A Novel COMP Mutated Allele Identified in a Chinese Family with Pseudoachondroplasia.
Biomed Res Int
; 2021: 6678531, 2021.
Article
in English
| MEDLINE | ID: mdl-33748277
6.
Case Report: BAF-Opathies/SSRIDDs Due to a de novo ACTL6A Variant, Previously Considered to Be Heart-Hand Syndrome.
Front Cardiovasc Med
; 8: 708033, 2021.
Article
in English
| MEDLINE | ID: mdl-34485408
7.
Case Report: Mutant SCN9A Susceptible to Charcot Neuroarthropathy in a Patient With Congenital Insensitivity to Pain.
Front Neurosci
; 15: 697167, 2021.
Article
in English
| MEDLINE | ID: mdl-34335171
8.
A Novel Nonsense MMP21 Variant Causes Dextrocardia and Congenital Heart Disease in a Han Chinese Patient.
Front Cardiovasc Med
; 7: 582350, 2020.
Article
in English
| MEDLINE | ID: mdl-33240936
9.
Identification of an unknown frameshift variant of NOG in a Han Chinese family with proximal symphalangism.
Biosci Rep
; 40(6)2020 06 26.
Article
in English
| MEDLINE | ID: mdl-32478388
10.
Novel Compound Heterozygous DST Variants Causing Hereditary Sensory and Autonomic Neuropathies VI in Twins of a Chinese Family.
Front Genet
; 11: 492, 2020.
Article
in English
| MEDLINE | ID: mdl-32528525
11.
Haploinsufficiency of syncoilin leads to hypertrophic cardiomyopathy.
Genes Dis
; 9(6): 1412-1414, 2022 Nov.
Article
in English
| MEDLINE | ID: mdl-36157493
12.
Mutant CARD10 in a family with progressive immunodeficiency and autoimmunity.
Cell Mol Immunol
; 17(7): 782-784, 2020 07.
Article
in English
| MEDLINE | ID: mdl-32238915
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