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Mutations in FAM20C Are Associated with Lethal Osteosclerotic Bone Dysplasia (Raine Syndrome), Highlighting a Crucial Molecule in Bone Development

American journal of human genetics, 2007-11, Vol.81 (5), p.906-912

2007

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A B3GALT6 variant in patient originally described as Al‐Gazali syndrome and implicating the endoplasmic reticulum quality control in the mechanism of some β3GalT6‐pathy mutations

Clinical genetics, 2018-06, Vol.93 (6), p.1148-1158

2018

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Expanding the clinical and genetic spectra of NKX6‐2‐related disorder

Clinical genetics, 2018-05, Vol.93 (5), p.1087-1092

2018

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Chondrodysplasia with multiple dislocations: comprehensive study of a series of 30 cases

Clinical genetics, 2017-06, Vol.91 (6), p.868-880

2017

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Mutations in WNT7A Cause a Range of Limb Malformations, Including Fuhrmann Syndrome and Al-Awadi/Raas-Rothschild/Schinzel Phocomelia Syndrome

American journal of human genetics, 2006-08, Vol.79 (2), p.402-408

2006

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Stüve-Wiedemann syndrome and related bent bone dysplasias

Clinical genetics, 2012-07, Vol.82 (1), p.12-21

2012

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Mutations in Cytokine Receptor-Like Factor 1 ( CRLF1) Account for Both Crisponi and Cold-Induced Sweating Syndromes

American journal of human genetics, 2007-05, Vol.80 (5), p.966-970

2007

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Clinical and molecular analysis of UAE fibrochondrogenesis patients expands the phenotype and reveals two COL11A1 homozygous null mutations

Clinical genetics, 2012-08, Vol.82 (2), p.147-156

2012

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Wolcott-Rallison syndrome: pathogenic insights into neonatal diabetes from new mutation and expression studies of EIF2AK3

Journal of medical genetics, 2003-09, Vol.40 (9), p.685-689

2003

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A novel locus for hereditary spastic paraplegia with thin corpus callosum and epilepsy

Neurology, 2006-04, Vol.66 (8), p.1230-1234

2006

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Stuve–Wiedemann syndrome: a skeletal dysplasia characterized by bowed long bones

Ultrasound in obstetrics & gynecology, 2011-11, Vol.38 (5), p.553-558

2011

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A new autosomal recessive syndrome of ocular colobomas, ichthyosis, brain malformations and endocrine abnormalities in an inbred Emirati family

American journal of medical genetics. Part A, 2008-04, Vol.146A (7), p.813-819

2008

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A novel NGF mutation clarifies the molecular mechanism and extends the phenotypic spectrum of the HSAN5 neuropathy

Journal of medical genetics, 2011-02, Vol.48 (2), p.131-135

2011

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Homozygosity mapping of a Desbuquois dysplasia locus to chromosome 17q25.3

Journal of medical genetics, 2003-04, Vol.40 (4), p.282-284

2003

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A Novel Early Onset Lethal Form of Catecholaminergic Polymorphic Ventricular Tachycardia Maps to Chromosome 7p14-p22

Journal of cardiovascular electrophysiology, 2007-10, Vol.18 (10), p.1060-1066

2007

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Attitudes toward Genetic Counseling in the United Arab Emirates

Community genetics, 2005-01, Vol.8 (1), p.48-51

Al-Gazali, L.I.

2005

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A study of possible deleterious effects of consanguinity

Clinical genetics, 1997-03, Vol.51 (3), p.167-173

1997

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Mutation analysis of the MKKS gene in McKusick-Kaufman syndrome and selected Bardet-Biedl syndrome patients

Human genetics, 2002-06, Vol.110 (6), p.561-567

2002

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Distinguishing 3 classes of corpus callosal abnormalities in consanguineous families

Neurology, 2011-01, Vol.76 (4), p.373-382

2011

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Are the strokes in moyamoya syndrome associated with Down syndrome due to protein C deficiency?

Brain & development (Tokyo. 1979), 2002-10, Vol.24 (7), p.719-722

2002

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Absent pituitary gland and hypoplasia of the cerebellar vermis associated with partial ophthalmoplegia and postaxial polydactyly: a variant of orofaciodigital syndrome VI or a new syndrome?

Journal of medical genetics, 1999-02, Vol.36 (2), p.161-166

1999

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United Arab Emirates: Communities and Community Genetics

Community genetics, 2005-01, Vol.8 (3), p.186-196

2005

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The profile of major congenital abnormalities in the United Arab Emirates (UAE) population

Journal of medical genetics, 1995-01, Vol.32 (1), p.7-13

1995

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Diagnostic criteria, clinical characteristics, and natural history of Cohen syndrome

Journal of medical genetics, 2003-04, Vol.40 (4), p.233-241

2003

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A novel mutation in a family with non-syndromic sensorineural hearing loss that disrupts the newly characterised OTOF long isoforms

Journal of medical genetics, 2001-08, Vol.38 (8), p.E25-25

2001

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Mutations in FAM20C Are Associated with Lethal Osteosclerotic Bone Dysplasia (Raine Syndrome), Highlighting a Crucial Molecule in Bone Development

A B3GALT6 variant in patient originally described as Al‐Gazali syndrome and implicating the endoplasmic reticulum quality control in the mechanism of some β3GalT6‐pathy mutations

Expanding the clinical and genetic spectra of NKX6‐2‐related disorder

Chondrodysplasia with multiple dislocations: comprehensive study of a series of 30 cases

Mutations in WNT7A Cause a Range of Limb Malformations, Including Fuhrmann Syndrome and Al-Awadi/Raas-Rothschild/Schinzel Phocomelia Syndrome

Stüve-Wiedemann syndrome and related bent bone dysplasias

Mutations in Cytokine Receptor-Like Factor 1 ( CRLF1) Account for Both Crisponi and Cold-Induced Sweating Syndromes

Clinical and molecular analysis of UAE fibrochondrogenesis patients expands the phenotype and reveals two COL11A1 homozygous null mutations

Wolcott-Rallison syndrome: pathogenic insights into neonatal diabetes from new mutation and expression studies of EIF2AK3

A novel locus for hereditary spastic paraplegia with thin corpus callosum and epilepsy

Stuve–Wiedemann syndrome: a skeletal dysplasia characterized by bowed long bones

A new autosomal recessive syndrome of ocular colobomas, ichthyosis, brain malformations and endocrine abnormalities in an inbred Emirati family

A novel NGF mutation clarifies the molecular mechanism and extends the phenotypic spectrum of the HSAN5 neuropathy

Homozygosity mapping of a Desbuquois dysplasia locus to chromosome 17q25.3

A Novel Early Onset Lethal Form of Catecholaminergic Polymorphic Ventricular Tachycardia Maps to Chromosome 7p14-p22

Attitudes toward Genetic Counseling in the United Arab Emirates

A study of possible deleterious effects of consanguinity

Mutation analysis of the MKKS gene in McKusick-Kaufman syndrome and selected Bardet-Biedl syndrome patients

Distinguishing 3 classes of corpus callosal abnormalities in consanguineous families

Are the strokes in moyamoya syndrome associated with Down syndrome due to protein C deficiency?

Absent pituitary gland and hypoplasia of the cerebellar vermis associated with partial ophthalmoplegia and postaxial polydactyly: a variant of orofaciodigital syndrome VI or a new syndrome?

United Arab Emirates: Communities and Community Genetics

The profile of major congenital abnormalities in the United Arab Emirates (UAE) population

Diagnostic criteria, clinical characteristics, and natural history of Cohen syndrome

A novel mutation in a family with non-syndromic sensorineural hearing loss that disrupts the newly characterised OTOF long isoforms

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