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1.
Practical approach to the genetic diagnosis of unsolved dystrophinopathies: a stepwise strategy in the genomic era.
J Med Genet
; 58(11): 743-751, 2021 11.
Article
in English
| MEDLINE | ID: mdl-32978268
2.
Exome sequencing reveals predominantly de novo variants in disorders with intellectual disability (ID) in the founder population of Finland.
Hum Genet
; 140(7): 1011-1029, 2021 Jul.
Article
in English
| MEDLINE | ID: mdl-33710394
3.
The genetic contribution of the X chromosome in age-related hearing loss.
Front Genet
; 14: 1106328, 2023.
Article
in English
| MEDLINE | ID: mdl-36896235
4.
Variants in JAZF1 are associated with asthma, type 2 diabetes, and height in the United Kingdom biobank population.
Front Genet
; 14: 1129389, 2023.
Article
in English
| MEDLINE | ID: mdl-37377600
5.
Rare-variant association analysis reveals known and new age-related hearing loss genes.
Eur J Hum Genet
; 31(6): 638-647, 2023 06.
Article
in English
| MEDLINE | ID: mdl-36788145
6.
SCN1A Variants as the Underlying Cause of Genetic Epilepsy with Febrile Seizures Plus in Two Multi-Generational Colombian Families.
Genes (Basel)
; 13(5)2022 04 25.
Article
in English
| MEDLINE | ID: mdl-35627139
7.
Exome sequencing of families from Ghana reveals known and candidate hearing impairment genes.
Commun Biol
; 5(1): 369, 2022 04 19.
Article
in English
| MEDLINE | ID: mdl-35440622
8.
Protective association exhibited by a single nucleotide polymorphism of the IFIH1 gene in patients with psoriasis: A case-control study. / Asociación protectora del polimorfismo de nucleótido único en IFIH1 en pacientes con psoriasis: estudio de casos y controles.
Medwave
; 21(11): e8492, 2021 Dec 03.
Article
in Spanish, English
| MEDLINE | ID: mdl-34882124
9.
Long-read whole-genome sequencing for the genetic diagnosis of dystrophinopathies.
Ann Clin Transl Neurol
; 7(10): 2041-2046, 2020 10.
Article
in English
| MEDLINE | ID: mdl-32951359
10.
Hearing impairment locus heterogeneity and identification of PLS1 as a new autosomal dominant gene in Hungarian Roma.
Eur J Hum Genet
; 27(6): 869-878, 2019 06.
Article
in English
| MEDLINE | ID: mdl-30872814
11.
Sleepwalking and Sleep Paralysis: Prevalence in Colombian Families With Genetic Generalized Epilepsy.
J Child Neurol
; 34(9): 491-498, 2019 08.
Article
in English
| MEDLINE | ID: mdl-31012364
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