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Genomics DNA profiling in elite professional soccer players: a pilot study

Translational medicine @ UniSa, 2014-04, Vol.9, p.18-22

2014

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Myofibromatose infantile multicentrique familiale : implication du gène PDGFRB

Annales de dermatologie et de vénéréologie, 2016-12, Vol.143 (12), p.S133-S133

2016

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Syndrome HELIX : une nouvelle claudine impliquée

Annales de dermatologie et de vénéréologie, 2013-12, Vol.140 (12), p.S486-S487

2013

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Syndrome HELIX : une nouvelle claudine impliquée

Annales de dermatologie et de vénéréologie, 2013-12, Vol.140 (12), p.S633-S633

2013

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Localization of the Gene for a Novel Autosomal Recessive Neurodegenerative Huntington-Like Disorder to 4p15.3

American journal of human genetics, 2000-02, Vol.66 (2), p.445-452

2000

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Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome

Nature genetics, 2006-04, Vol.38 (4), p.452-457

2006

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Novel Twinkle gene mutation in autosomal dominant progressive external ophthalmoplegia and multisystem failure

Neuromuscular disorders : NMD, 2009-12, Vol.19 (12), p.845-848

2009

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Gaucher disease with oculomotor apraxia and cardiovascular calcification (Gaucher type IIIC)

Neurology, 2000-01, Vol.54 (1), p.261-261

2000

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Autosomal dominant hyaline body myopathy: clinical variability and pathologic findings

Neurology, 2003-12, Vol.61 (11), p.1519-1523

2003

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A novel form of autosomal recessive pure hereditary spastic paraplegia maps to chromosome 13q14

Neurology, 2002-12, Vol.59 (12), p.1905-1909

2002

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Heterozygous PDGFRB Mutation in a Three-generation Family with Autosomal Dominant Infantile Myofibromatosis

Acta dermato-venereologica, 2017-07, Vol.97 (7), p.858-859

2017

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Identification of novel mutations in Arabs with cystic fibrosis and their impact on the cystic fibrosis transmembrane regulator mutation detection rate in Arab populations

European journal of pediatrics, 2000-05, Vol.159 (5), p.303-309

2000

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A novel de novo PSTPIP1 mutation in a boy with pyogenic arthritis, pyoderma gangrenosum, acne (PAPA) syndrome

Clinical and experimental rheumatology, 2014-11, Vol.32 (6), p.956

2014

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Mutation of the matrix metalloproteinase 2 gene ( MMP2 ) causes a multicentric osteolysis and arthritis syndrome

Nature genetics, 2001-07, Vol.28 (3), p.261-265

2001

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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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Rapid extraction of fungal DNA from clinical samples for PCR amplification

Medical mycology (Oxford), 1999-02, Vol.37 (1), p.69-73

1999

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Rare CFTR Mutation 1525-1G〉A in a Pakistani Patient

Journal of tropical pediatrics (1980), 2004-04, Vol.50 (2), p.120-122

2004

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Identification of medically significant fungal genera by polymerase chain reaction followed by restriction enzyme analysis

FEMS immunology and medical microbiology, 1999-04, Vol.23 (4), p.303-312

1999

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Heterogeneity of the cystic fibrosis phenotype in a large kindred family in qatar with cystic fibrosis mutation (I1234V)

Journal of tropical pediatrics (1980), 2001-04, Vol.47 (2), p.110-112

2001

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P01-006 – MEFV mutation detection in Arabic patients

Pediatric rheumatology online journal, 2013-11, Vol.11 (S1), p.A10-A10, Article A10

2013

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Geographic distribution of cystic fibrosis transmembrane regulator gene mutations in Saudi Arabia

Annals of tropical paediatrics, 1999-03, Vol.19 (1), p.69-73

1999

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The effects of dietary fish oil on hepatic high density and low density lipoprotein receptor activities in the rat

FEBS letters, 1987-09, Vol.222 (1), p.159-162

1987

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P02-006 - A novel PSTPIP1 mutation in PAPA syndrome

Pediatric rheumatology online journal, 2013-11, Vol.11 (S1), p.A113-A113, Article A113

2013

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The Hope of Biologicals: Toxins, Microbiomes and Phages

Biosecurity in the Making, 2024, p.107-118

1, 2024

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Genomics DNA profiling in elite professional soccer players: a pilot study

Myofibromatose infantile multicentrique familiale : implication du gène PDGFRB

Syndrome HELIX : une nouvelle claudine impliquée

Syndrome HELIX : une nouvelle claudine impliquée

Localization of the Gene for a Novel Autosomal Recessive Neurodegenerative Huntington-Like Disorder to 4p15.3

Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome

Novel Twinkle gene mutation in autosomal dominant progressive external ophthalmoplegia and multisystem failure

Gaucher disease with oculomotor apraxia and cardiovascular calcification (Gaucher type IIIC)

Autosomal dominant hyaline body myopathy: clinical variability and pathologic findings

A novel form of autosomal recessive pure hereditary spastic paraplegia maps to chromosome 13q14

Heterozygous PDGFRB Mutation in a Three-generation Family with Autosomal Dominant Infantile Myofibromatosis

Identification of novel mutations in Arabs with cystic fibrosis and their impact on the cystic fibrosis transmembrane regulator mutation detection rate in Arab populations

A novel de novo PSTPIP1 mutation in a boy with pyogenic arthritis, pyoderma gangrenosum, acne (PAPA) syndrome

Mutation of the matrix metalloproteinase 2 gene ( MMP2 ) causes a multicentric osteolysis and arthritis syndrome

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

Rapid extraction of fungal DNA from clinical samples for PCR amplification

Rare CFTR Mutation 1525-1G〉A in a Pakistani Patient

Dating the Origin of the CCR5-Δ 32 AIDS-Resistance Allele by the Coalescence of Haplotypes

Identification of medically significant fungal genera by polymerase chain reaction followed by restriction enzyme analysis

Heterogeneity of the cystic fibrosis phenotype in a large kindred family in qatar with cystic fibrosis mutation (I1234V)

P01-006 – MEFV mutation detection in Arabic patients

Geographic distribution of cystic fibrosis transmembrane regulator gene mutations in Saudi Arabia

The effects of dietary fish oil on hepatic high density and low density lipoprotein receptor activities in the rat

P02-006 - A novel PSTPIP1 mutation in PAPA syndrome

The Hope of Biologicals: Toxins, Microbiomes and Phages

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