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1.
A wide range of protective and predisposing variants in aggrecan influence the susceptibility for otosclerosis.
Hum Genet
; 141(3-4): 951-963, 2022 Apr.
Article
in English
| MEDLINE | ID: mdl-34410490
2.
Osmotic stress inhibits leaf growth of Arabidopsis thaliana by enhancing ARF-mediated auxin responses.
New Phytol
; 226(6): 1766-1780, 2020 06.
Article
in English
| MEDLINE | ID: mdl-32077108
3.
Insufficient evidence for a role of SERPINF1 in otosclerosis.
Mol Genet Genomics
; 294(4): 1001-1006, 2019 Aug.
Article
in English
| MEDLINE | ID: mdl-30968248
4.
Variants affecting diverse domains of MEPE are associated with two distinct bone disorders, a craniofacial bone defect and otosclerosis.
Genet Med
; 21(5): 1199-1208, 2019 05.
Article
in English
| MEDLINE | ID: mdl-30287925
5.
Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6.
Am J Hum Genet
; 97(4): 535-45, 2015 Oct 01.
Article
in English
| MEDLINE | ID: mdl-26387595
6.
DNA Diagnostics of Hereditary Hearing Loss: A Targeted Resequencing Approach Combined with a Mutation Classification System.
Hum Mutat
; 37(8): 812-9, 2016 08.
Article
in English
| MEDLINE | ID: mdl-27068579
7.
A mutation in CABP2, expressed in cochlear hair cells, causes autosomal-recessive hearing impairment.
Am J Hum Genet
; 91(4): 636-45, 2012 10 05.
Article
in English
| MEDLINE | ID: mdl-22981119
8.
A sensitive and specific diagnostic test for hearing loss using a microdroplet PCR-based approach and next generation sequencing.
Am J Med Genet A
; 161A(1): 145-52, 2013 Jan.
Article
in English
| MEDLINE | ID: mdl-23208854
9.
Resequencing of candidate genes for Keratoconus reveals a role for Ehlers-Danlos Syndrome genes.
Eur J Hum Genet
; 29(12): 1745-1755, 2021 12.
Article
in English
| MEDLINE | ID: mdl-33737726
10.
Role of Targeted Next Generation Sequencing in the Etiological Work-Up of Congenitally Deaf Children.
Otol Neurotol
; 39(6): 732-738, 2018 07.
Article
in English
| MEDLINE | ID: mdl-29889784
11.
Molecular diagnostics for hereditary hearing loss in children.
Expert Rev Mol Diagn
; 17(8): 751-760, 2017 08.
Article
in English
| MEDLINE | ID: mdl-28593790
12.
Genetic association analysis in a clinically and histologically confirmed otosclerosis population confirms association with the TGFB1 gene but suggests an association of the RELN gene with a clinically indistinguishable otosclerosis-like phenotype.
Otol Neurotol
; 35(6): 1058-64, 2014 Jul.
Article
in English
| MEDLINE | ID: mdl-24643032
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