L.I. Al-Gazali

Biochemistry, Genetics and Molecular Biology · Life Sciences

26h-index2.6kcitations67works0.02yr avg
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Research Topics

Connective tissue disorders research(13), Genetic Syndromes and Imprinting(9), Metabolism and Genetic Disorders(7), Genomics and Rare Diseases(7), Fetal and Pediatric Neurological Disorders(7)

Publications67 total

Remove social barriers
Nature Middle East·2013· 1 cited
Whole-Genome Analysis Reveals that Mutations in Inositol Polyphosphate Phosphatase-like 1 Cause Opsismodysplasia
The American Journal of Human Genetics·2012· 62 citedOpen Access
New and known mutations associated with inborn errors of metabolism in a heterogeneous Middle Eastern population.
PubMed·2011· 14 cited
Homozygous Nonsense Mutations in TWIST2 Cause Setleis Syndrome
The American Journal of Human Genetics·2010· 71 citedOpen Access
A novel mutation in ARG1 gene is responsible for arginase deficiency in an Asian family.
PubMed·2009· 13 cited
FREM1 Mutations Cause Bifid Nose, Renal Agenesis, and Anorectal Malformations Syndrome
The American Journal of Human Genetics·2009· 7 citedOpen Access
Identification of CANT1 Mutations in Desbuquois Dysplasia
The American Journal of Human Genetics·2009· 103 citedOpen Access
FREM1 Mutations Cause Bifid Nose, Renal Agenesis, and Anorectal Malformations Syndrome
The American Journal of Human Genetics·2009· 90 citedOpen Access
Mutations in FAM20C Are Associated with Lethal Osteosclerotic Bone Dysplasia (Raine Syndrome), Highlighting a Crucial Molecule in Bone Development
The American Journal of Human Genetics·2007· 225 citedOpen Access
Mutations in Cytokine Receptor-Like Factor 1 (CRLF1) Account for Both Crisponi and Cold-Induced Sweating Syndromes
The American Journal of Human Genetics·2007· 69 citedOpen Access
Cohen syndrome: Report of nine cases and review of the literature, with emphasis on ophthalmic features
Journal of American Association for Pediatric Ophthalmology and Strabismus·2007· 54 cited
A novel locus for hereditary spastic paraplegia with thin corpus callosum and epilepsy
Neurology·2006· 51 cited
Cohen Syndrome—Report of Seven Cases and Literature Review
Journal of American Association for Pediatric Ophthalmology and Strabismus·2006
Sporadic Larsen Syndrome in a Preterm Female Originally Diagnosed as Positional Deformities Due to Oligohydramnios
American Journal of Perinatology·2006· 4 cited
Extreme Microcephaly With Agyria-Pachygyria, Partial Agenesis of the Corpus Callosum, and Pontocerebellar Dysplasia
Journal of Child Neurology·2005· 21 cited
Mutations inPOMT1 are found in a minority of patients with Walker-Warburg syndrome
American Journal of Medical Genetics Part A·2005· 59 cited
Attitudes toward Genetic Counseling in the United Arab Emirates
Public Health Genomics·2005· 31 cited
Subject Index Vol. 8, No. 1, 2005
Community Genetics·2005Open Access
United Arab Emirates: Communities and Community Genetics
Public Health Genomics·2005· 50 cited
Mutations in the Transmembrane Natriuretic Peptide Receptor NPR-B Impair Skeletal Growth and Cause Acromesomelic Dysplasia, Type Maroteaux
The American Journal of Human Genetics·2004· 363 citedOpen Access
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Frequent Co-authors

D. Bakalinová(8), Adekunle Dawodu(7), László Sztriha(7), Michael Nork(6), M. Bakır(5), Jozef Hertecant(5), Valérie Cormier‐Daire(4), Yousef M. Abdulrazzaq(4), Céline Huber(3), Arnold Münnich(3), D. Haas(3), E Várady(3), M. Bakir(3), David Chitayat(2), Geert Mortier(2), Nathalie Dagoneau(2), Maja Di Rocco(2), Sheila Unger(2), Andrea Superti‐Furga(2), Martine Le Merrer(2)