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1 . Academic Journal
Corrigendum: Current phenotypic and genetic spectrum of syndromic deafness in Tunisia: paving the way for precision auditory health
저자
by
Rahma Mkaouar
;
Zied Riahi
;
Jihene Marrakchi
;
Nessrine Mezzi
;
Lilia Romdhane
, et al.
소스
Frontiers in Genetics, Vol 15 (2024)
Open Access (DOAJ)
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7 . Academic Journal
Current phenotypic and genetic spectrum of syndromic deafness in Tunisia: paving the way for precision auditory health
저자
by
Rahma Mkaouar
;
Zied Riahi
;
Jihene Marrakchi
;
Nessrine Mezzi
;
Lilia Romdhane
, et al.
소스
Frontiers in Genetics, Vol 15 (2024)
Open Access (DOAJ)
Web of Science
Scopus
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7 . Academic Journal
Identification of two variants in AGRN and RPL3L genes in a patient with catecholaminergic polymorphic ventricular tachycardia suggesting new candidate disease genes and digenic inheritance
저자
by
Hager Jaouadi
;
Sonia Chabrak
;
Saida Lahbib
;
Sonia Abdelhak
;
Stéphane Zaffran
.
소스
Clinical Case Reports, Vol 10, Iss 2, Pp n/a-n/a (2022)
Open Access (Wiley)
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7 . Academic Journal
Oligogenic Inheritance Underlying Incomplete Penetrance of PROKR2 Mutations in Hypogonadotropic Hypogonadism
저자
by
Rahma Mkaouar
;
Lamia Cherif Ben Abdallah
;
Chokri Naouali
;
Saida Lahbib
;
Zinet Turki
, et al.
소스
Frontiers in Genetics, Vol 12 (2021)
Open Access (DOAJ)
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7 . Academic Journal
Whole exome sequencing identifies mutations in Usher syndrome genes in profoundly deaf Tunisian patients.
저자
by
Zied Riahi
;
Crystel Bonnet
;
Rim Zainine
;
Saida Lahbib
;
Yosra Bouyacoub
, et al.
소스
PLoS ONE, Vol 10, Iss 3, p e0120584 (2015)
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7 .
Novel MED12 variant in a multiplex Fragile X syndrome family: dual molecular etiology of two X-linked intellectual disabilities with autism in the same family
저자
by
Rym Kefi
;
Saida Lahbib
;
Rym Bourourou
;
Hamza Dallali
;
Sonia Abdelhak
, et al.
소스
Molecular Biology Reports
. 46:4185-4193
Web of Science
Scopus
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7 .
TOP3B: A Novel Candidate Gene in Juvenile Myoclonic Epilepsy?
저자
by
Faouzi Maazoul
;
Wided Kelmemi
;
S. Echebbi
;
Ridha Mrad
;
Nadia Ben Ali
, et al.
소스
Cytogenetic and Genome Research
. 154:1-5
Web of Science
Scopus
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7 .
Homozygous 2p11.2 deletion supports the implication of ELMOD3 in hearing loss and reveals the potential association of CAPG with ASD/ID etiology
저자
by
Ilhem Ben Youssef-Turki
;
Saida Lahbib
;
Mariem Hamza
;
Ichraf Kraoua
;
Béatrice Regnault
, et al.
소스
Journal of Applied Genetics
Journal of Applied Genetics, 2018, ⟨10.1007/s13353-018-0472-3⟩
Journal of Applied Genetics, Institute of Plant Genetics, 2018, ⟨10.1007/s13353-018-0472-3⟩
Scopus
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7 .
Whole exome sequencing identifies mutations in Usher syndrome genes in profoundly deaf Tunisian patients
저자
by
Sonia Abdelhak
;
Zied Riahi
;
L. Largueche
;
Rim Zainine
;
Moncef Kheirallah
, et al.
소스
PLoS ONE
PLoS ONE, 2015, 10 (3), pp.e0120584. ⟨10.1371/journal.pone.0120584⟩
PLoS ONE, Public Library of Science, 2015, 10 (3), pp.e0120584. ⟨10.1371/journal.pone.0120584⟩
PLoS ONE, Vol 10, Iss 3, p e0120584 (2015)
Open Access (OpenAIRE)
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