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Nizar Smaoui

Showing results (1-10 of 30) with videos related to

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Developments in Ophthalmology|July 25, 2003
Molecular genetics of cataractJ Fielding Hejtmancik, Nizar Smaoui
The New England Journal of Medicine|March 11, 2026
Genetic Variation in Clinical Cohorts. ReplyFedik Rahimov, Howard J Jacob, Nizar Smaoui
American Journal of Medical Genetics. Part A|January 29, 2011
De novo duplication 11p13 involving the PAX6 gene in a patient with neonatal seizures, hypotonia, microcephaly, developmental disability and minor ocular manifestationsSwaroop Aradhya, Nizar Smaoui, Michael Marble, et al.
Documenta Ophthalmologica. Advances in Ophthalmology|January 4, 2015
Abnormal cone ERGs in a family with congenital nystagmus and photophobia harboring a p.X423Lfs mutation in the PAX6 geneMichael Philip Hood, Natalie Christine Kerr, Nizar Smaoui, et al.
European Journal of Medical Genetics|March 4, 2014
Novel de novo SPOCK1 mutation in a proband with developmental delay, microcephaly and agenesis of corpus callosumRadhika Dhamija, John M Graham, Nizar Smaoui, et al.
American Journal of Medical Genetics. Part A|May 14, 2014
Advanced bone age in a girl with Wiedemann-Steiner syndrome and an exonic deletion in KMT2A (MLL)Bryce A Mendelsohn, Melissa Pronold, Roger Long, et al.
Investigative Ophthalmology & Visual Science|May 29, 2009
Null retinoschisin-protein expression from an RS1 c354del1-ins18 mutation causing progressive and severe XLRS in a cross-sectional family studyCamasamudram Vijayasarathy, Lucia Ziccardi, Yong Zeng, et al.
Clinical Dysmorphology|December 17, 2004
Mutation analysis of TBX22 reveals new mutation in Tunisian CPX familyMyriam Chaabouni, Nizar Smaoui, Neila Benneji, et al.
Investigative Ophthalmology & Visual Science|July 28, 2004
A homozygous splice mutation in the HSF4 gene is associated with an autosomal recessive congenital cataractNizar Smaoui, Omar Beltaief, Sonia BenHamed, et al.
Journal of Crohn'S & Colitis|August 20, 2024
HLA-DQA1*05 Associates With Anti-Tumor Necrosis Factor Immunogenicity and Low Adalimumab Trough Concentrations in Inflammatory Bowel Disease Patients From the SERENE Ulcerative Colitis and Crohn's Disease StudiesMark Reppell, Xiuwen Zheng, Ingeborg Dreher, et al.
Pageof 3

Showing results (1-10 of 30) with videos related to

Sort By:
Pageof 3
Developments in Ophthalmology|July 25, 2003
Molecular genetics of cataractJ Fielding Hejtmancik, Nizar Smaoui
The New England Journal of Medicine|March 11, 2026
Genetic Variation in Clinical Cohorts. ReplyFedik Rahimov, Howard J Jacob, Nizar Smaoui
American Journal of Medical Genetics. Part A|January 29, 2011
De novo duplication 11p13 involving the PAX6 gene in a patient with neonatal seizures, hypotonia, microcephaly, developmental disability and minor ocular manifestationsSwaroop Aradhya, Nizar Smaoui, Michael Marble, et al.
Documenta Ophthalmologica. Advances in Ophthalmology|January 4, 2015
Abnormal cone ERGs in a family with congenital nystagmus and photophobia harboring a p.X423Lfs mutation in the PAX6 geneMichael Philip Hood, Natalie Christine Kerr, Nizar Smaoui, et al.
European Journal of Medical Genetics|March 4, 2014
Novel de novo SPOCK1 mutation in a proband with developmental delay, microcephaly and agenesis of corpus callosumRadhika Dhamija, John M Graham, Nizar Smaoui, et al.
American Journal of Medical Genetics. Part A|May 14, 2014
Advanced bone age in a girl with Wiedemann-Steiner syndrome and an exonic deletion in KMT2A (MLL)Bryce A Mendelsohn, Melissa Pronold, Roger Long, et al.
Investigative Ophthalmology & Visual Science|May 29, 2009
Null retinoschisin-protein expression from an RS1 c354del1-ins18 mutation causing progressive and severe XLRS in a cross-sectional family studyCamasamudram Vijayasarathy, Lucia Ziccardi, Yong Zeng, et al.
Clinical Dysmorphology|December 17, 2004
Mutation analysis of TBX22 reveals new mutation in Tunisian CPX familyMyriam Chaabouni, Nizar Smaoui, Neila Benneji, et al.
Investigative Ophthalmology & Visual Science|July 28, 2004
A homozygous splice mutation in the HSF4 gene is associated with an autosomal recessive congenital cataractNizar Smaoui, Omar Beltaief, Sonia BenHamed, et al.
Journal of Crohn'S & Colitis|August 20, 2024
HLA-DQA1*05 Associates With Anti-Tumor Necrosis Factor Immunogenicity and Low Adalimumab Trough Concentrations in Inflammatory Bowel Disease Patients From the SERENE Ulcerative Colitis and Crohn's Disease StudiesMark Reppell, Xiuwen Zheng, Ingeborg Dreher, et al.
Pageof 3