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Inclusion of joint laxity, recurrent patellar dislocation, and short distal ulnae as a feature of Van Den Ende-Gupta syndrome: a case report

BMC medical genetics, 2018-01, Vol.19 (1), p.18-18, Article 18

2018

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Identification of Novel CDH23 Variants Causing Moderate to Profound Progressive Nonsyndromic Hearing Loss

Genes, 2020-12, Vol.11 (12), p.1474

2020

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GZF1 Mutations Expand the Genetic Heterogeneity of Larsen Syndrome

American journal of human genetics, 2017-05, Vol.100 (5), p.831-836

2017

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25-Hydroxylase vitamin D deficiency in 27 Saudi Arabian subjects: a clinical and molecular report on CYP2R1 mutations

Endocrine Connections, 2021-07, Vol.10 (7), p.767-775

2021

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First report of two successive deletions on chromosome 15q13 cytogenetic bands in a boy and girl: additional data to 15q13.3 syndrome with a report of high IQ patient

Molecular cytogenetics, 2019-05, Vol.12 (1), p.21-21, Article 21

2019

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Long-term outcome of genital reconstruction of Middle Eastern women with congenital adrenal hyperplasia

Urology annals, 2013-10, Vol.5 (4), p.277-282

2013

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Chromosome 12q24.31-q24.33 deletion causes multiple dysmorphic features and developmental delay: First mosaic patient and overview of the phenotype related to 12q24qter defects

Molecular cytogenetics, 2011-04, Vol.4 (1), p.9-9, Article 9

2011

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Persistent Hyperinsulinaemic Hypoglycaemia of Infancy in 43 Children: Long-term Clinical and Surgical Follow-up

Asian journal of surgery, 2006-07, Vol.29 (3), p.207-211

2006

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FKBP10 and Bruck Syndrome: Phenotypic Heterogeneity or Call for Reclassification?

American journal of human genetics, 2010-08, Vol.87 (2), p.306-307

2010

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Glycemic control and treatment satisfaction in Saudi diabetic children on insulin pump therapy

Annals of Saudi medicine, 2006-09, Vol.26 (5), p.405-405

2006

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Continuous subcutaneous insulin infusion in type 1 diabetic Saudi children: a comparison with multiple daily insulin injections

Annals of Saudi medicine, 2006-07, Vol.26 (4), p.327-328

2006

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Glycemic control and treatment satisfaction in Saudi diabetic children on insulin pump therapy

Annals of Saudi medicine, 2006-05, Vol.26 (3), p.247-248

2006

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Gender identity in congenital adrenal hyperplasia secondary to 11-hydroxylase deficiency

Annals of Saudi medicine, 2006-05, Vol.26 (3), p.239-241

2006

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Mutations in C2orf37, Encoding a Nucleolar Protein, Cause Hypogonadism, Alopecia, Diabetes Mellitus, Mental Retardation, and Extrapyramidal Syndrome

American journal of human genetics, 2008-12, Vol.83 (6), p.684-691

2008

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Continuous subcutaneous insulin infusion in type 1 diabetic Saudi children. A comparison with conventional insulin therapy

Saudi medical journal, 2005-06, Vol.26 (6), p.918

2005

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Exome sequencing identifies novel NTRK1 mutations in patients with HSAN‐IV phenotype

American journal of medical genetics. Part A, 2017-04, Vol.173 (4), p.1009-1016

2017

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Prevalence and characteristics of celiac disease in type I diabetes mellitus in Saudi Arabia

Saudi medical journal, 2003-10, Vol.24 (10), p.1113

2003

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Multiple displacement amplification on single cell and possible PGD applications

Molecular human reproduction, 2004-11, Vol.10 (11), p.847-852

2004

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Congenital adrenal hyperplasia due to 3 beta-hydroxysteroid dehydrogenase type II deficiency in 4 Saudi children. Long term follow up

Saudi medical journal, 2004-09, Vol.25 (9), p.1293

2004

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A recessive form of Marshall syndrome is caused by a mutation in the COL11A1 gene

Journal of medical genetics, 2012-04, Vol.49 (4), p.246-248

2012

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Mutation of TBCE causes hypoparathyroidism- retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome

Nature genetics, 2002-11, Vol.32 (3), p.448-452

2002

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Multiple daily insulin regimen using insulin glargine in type 1 diabetic Saudi children

Saudi medical journal, 2006-02, Vol.27 (2), p.262

2006

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Diabetes mellitus and cystic fibrosis in 2 Saudi siblings

Saudi medical journal, 2002-12, Vol.23 (12), p.1541

2002

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FKBP10 and Bruck Syndrome: Phenotypic Heterogeneity or Call for Reclassification?

American journal of human genetics, 2010-10, Vol.87 (4), p.571-571

2010

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A novel X-linked disorder with developmental delay and autistic features

Annals of neurology, 2012-04, Vol.71 (4), p.498-508

2012

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Inclusion of joint laxity, recurrent patellar dislocation, and short distal ulnae as a feature of Van Den Ende-Gupta syndrome: a case report

Identification of Novel CDH23 Variants Causing Moderate to Profound Progressive Nonsyndromic Hearing Loss

GZF1 Mutations Expand the Genetic Heterogeneity of Larsen Syndrome

25-Hydroxylase vitamin D deficiency in 27 Saudi Arabian subjects: a clinical and molecular report on CYP2R1 mutations

First report of two successive deletions on chromosome 15q13 cytogenetic bands in a boy and girl: additional data to 15q13.3 syndrome with a report of high IQ patient

Long-term outcome of genital reconstruction of Middle Eastern women with congenital adrenal hyperplasia

Chromosome 12q24.31-q24.33 deletion causes multiple dysmorphic features and developmental delay: First mosaic patient and overview of the phenotype related to 12q24qter defects

Persistent Hyperinsulinaemic Hypoglycaemia of Infancy in 43 Children: Long-term Clinical and Surgical Follow-up

FKBP10 and Bruck Syndrome: Phenotypic Heterogeneity or Call for Reclassification?

Glycemic control and treatment satisfaction in Saudi diabetic children on insulin pump therapy

Continuous subcutaneous insulin infusion in type 1 diabetic Saudi children: a comparison with multiple daily insulin injections

Glycemic control and treatment satisfaction in Saudi diabetic children on insulin pump therapy

Gender identity in congenital adrenal hyperplasia secondary to 11-hydroxylase deficiency

Mutations in C2orf37, Encoding a Nucleolar Protein, Cause Hypogonadism, Alopecia, Diabetes Mellitus, Mental Retardation, and Extrapyramidal Syndrome

Continuous subcutaneous insulin infusion in type 1 diabetic Saudi children. A comparison with conventional insulin therapy

Exome sequencing identifies novel NTRK1 mutations in patients with HSAN‐IV phenotype

Prevalence and characteristics of celiac disease in type I diabetes mellitus in Saudi Arabia

Multiple displacement amplification on single cell and possible PGD applications

Congenital adrenal hyperplasia due to 3 beta-hydroxysteroid dehydrogenase type II deficiency in 4 Saudi children. Long term follow up

A recessive form of Marshall syndrome is caused by a mutation in the COL11A1 gene

Mutation of TBCE causes hypoparathyroidism- retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome

Multiple daily insulin regimen using insulin glargine in type 1 diabetic Saudi children

Diabetes mellitus and cystic fibrosis in 2 Saudi siblings

FKBP10 and Bruck Syndrome: Phenotypic Heterogeneity or Call for Reclassification?

A novel X-linked disorder with developmental delay and autistic features

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