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Journal of Pediatric Genetics
|
May 9, 2024
Alstrom's Syndrome: An Experience of Tertiary Care Center
Ghadah Gosadi, Maryam Busehail, Zuhair Rahbeeni
European Journal of Medical Genetics
|
January 13, 2018
A retrospective biochemical, molecular, and neurocognitive review of Saudi patients with argininosuccinic aciduria
Ruqaiah AlTassan, Dalal Bubshait, Faiqa Imtiaz, et al.
Journal of Pediatric Genetics
|
May 17, 2021
Hepatic Manifestations of 3-Hydroxy-3-Methylglutaryl-Coenzyme-A Lyase Deficiency in Saudi Patients: Experience of a Tertiary Care Center
Sinan Holdar, Zuhair Rahbeeni, Khushnooda Ramzan, et al.
Sudanese Journal of Paediatrics
|
February 27, 2026
A homozygous variant in <i>FGFR3</i> causing lethal skeletal dysplasia
Zuhair Rahbeeni, Hamdan Al-Shahrani, Mohamed Noon, et al.
Cureus
|
November 4, 2024
Report of DeSanto-Shinawi Syndrome in Three Boys With Two Novel Variants in the WAC Gene and Expansion of the Phenotype
Zuhair Rahbeeni, Nabilah Alwadani, Maryam Al-Shehhi, et al.
Frontiers in Genetics
|
February 13, 2023
Detailed genetic and clinical analysis of a novel <i>de novo</i> variant in <i>HPRT1</i>: Case report of a female patient from Saudi Arabia with Lesch-Nyhan syndrome
Albandary AlBakheet, Hanan AlQudairy, Joud Alkhalifah, et al.
Clinical Dysmorphology
|
June 11, 2008
Localized acalvaria with craniosynostosis
Eissa Faqeih, Zoltan Patay, Zuhair Rahbeeni, et al.
European Journal of Medical Genetics
|
November 2, 2010
Study of consanguineous populations can improve the annotation of SNP databases
Hanan E Shamseldin, Mohammed Al-Dosari, Latifa Al-Jbali, et al.
Pediatric Nephrology (Berlin, Germany)
|
November 7, 2025
Genetic causes of nephrolithiasis and nephrocalcinosis in a pediatric population in Saudi Arabia
Hadel Alsubaie, Bashaer Alluhaybi, Faten Zaidan, et al.
Saudi Journal of Ophthalmology : Official Journal of the Saudi Ophthalmological Society
|
December 14, 2017
Eradicating primary congenital glaucoma from Saudi Arabia: The case for a national screening program
Rizwan Malik, Rajiv Khandekar, Trishal Boodhna, et al.
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Search research articles
Search
Showing results (1-10 of 54) with videos related to
Sort By:
Page
of 6
Journal of Pediatric Genetics
|
May 9, 2024
Alstrom's Syndrome: An Experience of Tertiary Care Center
Ghadah Gosadi, Maryam Busehail, Zuhair Rahbeeni
European Journal of Medical Genetics
|
January 13, 2018
A retrospective biochemical, molecular, and neurocognitive review of Saudi patients with argininosuccinic aciduria
Ruqaiah AlTassan, Dalal Bubshait, Faiqa Imtiaz, et al.
Journal of Pediatric Genetics
|
May 17, 2021
Hepatic Manifestations of 3-Hydroxy-3-Methylglutaryl-Coenzyme-A Lyase Deficiency in Saudi Patients: Experience of a Tertiary Care Center
Sinan Holdar, Zuhair Rahbeeni, Khushnooda Ramzan, et al.
Sudanese Journal of Paediatrics
|
February 27, 2026
A homozygous variant in <i>FGFR3</i> causing lethal skeletal dysplasia
Zuhair Rahbeeni, Hamdan Al-Shahrani, Mohamed Noon, et al.
Cureus
|
November 4, 2024
Report of DeSanto-Shinawi Syndrome in Three Boys With Two Novel Variants in the WAC Gene and Expansion of the Phenotype
Zuhair Rahbeeni, Nabilah Alwadani, Maryam Al-Shehhi, et al.
Frontiers in Genetics
|
February 13, 2023
Detailed genetic and clinical analysis of a novel <i>de novo</i> variant in <i>HPRT1</i>: Case report of a female patient from Saudi Arabia with Lesch-Nyhan syndrome
Albandary AlBakheet, Hanan AlQudairy, Joud Alkhalifah, et al.
Clinical Dysmorphology
|
June 11, 2008
Localized acalvaria with craniosynostosis
Eissa Faqeih, Zoltan Patay, Zuhair Rahbeeni, et al.
European Journal of Medical Genetics
|
November 2, 2010
Study of consanguineous populations can improve the annotation of SNP databases
Hanan E Shamseldin, Mohammed Al-Dosari, Latifa Al-Jbali, et al.
Pediatric Nephrology (Berlin, Germany)
|
November 7, 2025
Genetic causes of nephrolithiasis and nephrocalcinosis in a pediatric population in Saudi Arabia
Hadel Alsubaie, Bashaer Alluhaybi, Faten Zaidan, et al.
Saudi Journal of Ophthalmology : Official Journal of the Saudi Ophthalmological Society
|
December 14, 2017
Eradicating primary congenital glaucoma from Saudi Arabia: The case for a national screening program
Rizwan Malik, Rajiv Khandekar, Trishal Boodhna, et al.
Page
of 6