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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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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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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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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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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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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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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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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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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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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

GZF1 Mutations Expand the Genetic Heterogeneity of Larsen Syndrome

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

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

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

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

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

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

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

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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