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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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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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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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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 study of possible deleterious effects of consanguinity

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

1997

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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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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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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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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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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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United Arab Emirates: Communities and Community Genetics

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

2005

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Bilateral retinopathy, aplastic anaemia, and central nervous system abnormalities: a new syndrome?

Journal of medical genetics, 1992-09, Vol.29 (9), p.673-675

1992

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Two 46,XX,t(X;Y) females with linear skin defects and congenital microphthalmia: a new syndrome at Xp22.3

Journal of medical genetics, 1990-01, Vol.27 (1), p.59-63

1990

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Autosomal recessive micrencephaly with simplified gyral pattern, abnormal myelination and arthrogryposis

Neuropediatrics, 1999-06, Vol.30 (3), p.141-145

1999

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Stüve-Wiedemann syndrome in children surviving infancy: clinical and radiological features

Clinical dysmorphology, 2003-01, Vol.12 (1), p.1-8

2003

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A Genetic Aetiological Survey of Severe Childhood Deafness in the United Arab Emirates

Journal of tropical pediatrics (1980), 1998-06, Vol.44 (3), p.157-160

AL-GAZALI, L. I

1998

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Organisation of the human PAX4 gene and its exclusion as a candidate for the Wolcott-Rallison syndrome

Journal of medical genetics, 1998-04, Vol.35 (4), p.288-292

1998

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Localisation of a gene for an autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia, and distinctive facies to chromosome 15q26

Journal of medical genetics, 2001-06, Vol.38 (6), p.369-373

2001

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A syndrome of insulin resistance resembling leprechaunism in five sibs of consanguineous parents

Journal of medical genetics, 1993-06, Vol.30 (6), p.470-475

1993

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CONSANGUINEOUS MARRIAGES IN THE UNITED ARAB EMIRATES

Journal of biosocial science, 1997-10, Vol.29 (4), p.491-497

1997

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Further delineation of Hennekam syndrome

Clinical dysmorphology, 2003-10, Vol.12 (4), p.227-232

2003

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Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders

European journal of human genetics : EJHG, 2013-10, Vol.21 (10), p.1074-1078

2013

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The Schinzel-Giedion syndrome

Journal of medical genetics, 1990-01, Vol.27 (1), p.42-47

1990

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A new locus for autosomal recessive non-syndromal sensorineural hearing impairment (DFNB27) on chromosome 2q23-q31

European journal of human genetics : EJHG, 2000-12, Vol.8 (12), p.991-993

2000

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Joubert’s syndrome: new cases and review of clinicopathologic correlation

Pediatric neurology, 1999-04, Vol.20 (4), p.274-281

1999

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

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

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

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

A study of possible deleterious effects of consanguinity

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

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

Attitudes toward Genetic Counseling in the United Arab Emirates

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?

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

United Arab Emirates: Communities and Community Genetics

Bilateral retinopathy, aplastic anaemia, and central nervous system abnormalities: a new syndrome?

Two 46,XX,t(X;Y) females with linear skin defects and congenital microphthalmia: a new syndrome at Xp22.3

Autosomal recessive micrencephaly with simplified gyral pattern, abnormal myelination and arthrogryposis

Stüve-Wiedemann syndrome in children surviving infancy: clinical and radiological features

A Genetic Aetiological Survey of Severe Childhood Deafness in the United Arab Emirates

Organisation of the human PAX4 gene and its exclusion as a candidate for the Wolcott-Rallison syndrome

Localisation of a gene for an autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia, and distinctive facies to chromosome 15q26

A syndrome of insulin resistance resembling leprechaunism in five sibs of consanguineous parents

CONSANGUINEOUS MARRIAGES IN THE UNITED ARAB EMIRATES

Further delineation of Hennekam syndrome

Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders

The Schinzel-Giedion syndrome

A new locus for autosomal recessive non-syndromal sensorineural hearing impairment (DFNB27) on chromosome 2q23-q31

Joubert’s syndrome: new cases and review of clinicopathologic correlation

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