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CO-OCCURRENCE OF PRIMARY MICROCEPHALY CAUSED BY A NOVEL HOMOZYGOUS ASPM MUTATION ALONG WITH X-LINKED ICHTHYOSIS IN THE SAME PATIENT

Genetic counseling, 2016, Vol.27 (1), p.25

2016

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The milder phenotype of the dystrophin gene double deletions

Acta neurologica Scandinavica, 2003-06, Vol.107 (6), p.400-404

2003

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Bartsocas-Papas syndrome with variable expressivity in an Egyptian family

Genetic counseling, 2012-01, Vol.23 (2), p.269

2012

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Screening for six Mediterranean mutations in 90 Egyptian patients with phenylketonuria

Bratislavské lékarské listy, 2008, Vol.109 (1), p.17-19

2008

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Molecular analysis of SMN1 and NAIP genes in Egyptian patients with spinal muscular atrophy

Bratislavské lékarské listy, 2007, Vol.108 (3), p.133-137

2007

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Screening of dystrophin gene deletions in Egyptian patients with DMD/BMD muscular dystrophies

Disease markers, 2000, Vol.16 (3-4), p.125-129

2000

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Serine 776 of Ataxin-1 Is Critical for Polyglutamine-Induced Disease in SCA1 Transgenic Mice

Neuron (Cambridge, Mass.), 2003-05, Vol.38 (3), p.375-387

2003

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Microcephalic osteodysplastic primordial dwarfism type II: Additional nine patients with implications on phenotype and genotype correlation

American journal of medical genetics. Part A, 2020-06, Vol.182 (6), p.1407-1420

2020

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P1219 IMPACT OF IL-28B GENE POLYMORPHISM ON INTRAFAMILIAL TRANSMISSION, AND RESPONSE TO TREATMENT OF HCV. IS IT OF THE SAME IMPORTANCE?

Journal of hepatology, 2014-04, Vol.60 (1), p.S494-S495

2014

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A homozygous mutation in RNU4ATAC as a cause of microcephalic osteodysplastic primordial dwarfism type I (MOPD I) with associated pigmentary disorder

American journal of medical genetics. Part A, 2011-11, Vol.155 (11), p.2885-2896

2011

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P6A: Role of IL-12B and IL-28B gene polymorphisms in families of HCV infected patients in the Nile Delta of Egypt

Journal of viral hepatitis, 2013-09, Vol.20 (s3), p.41-42

2013

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Randomized controlled trial protocol to evaluate the effect of an educational intervention using information, motivation and behavioral skills model on sexual satisfaction of new couples in Iran

Reproductive health, 2019-11, Vol.16 (1), p.1-10

2019

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Schistosoma hematobium soluble egg antigens induce proliferation of urothelial and endothelial cells

World journal of urology, 2001-08, Vol.19 (4), p.263-266

2001

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Impact of phosphorus loadings on macro-algal communities in the Red Sea coast of Egypt

Water, air, and soil pollution, 1995-08, Vol.83 (3/4), p.285-297

1995

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Seasonal changes in Cystoseira myrica and phosphorus input at two sites of the Red Sea Egyptian Coast

Water, air, and soil pollution, 1997, Vol.93 (1/4), p.199-211

1997

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A case of pili torti

Lyon medical, 1967-08, Vol.218 (34), p.296

1967

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Apropos of a case of pili torti

Bulletin de la Societe francaise de dermatologie et de syphiligraphie, 1967, Vol.74 (3), p.406

1967

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CO-OCCURRENCE OF PRIMARY MICROCEPHALY CAUSED BY A NOVEL HOMOZYGOUS ASPM MUTATION ALONG WITH X-LINKED ICHTHYOSIS IN THE SAME PATIENT

The milder phenotype of the dystrophin gene double deletions

Bartsocas-Papas syndrome with variable expressivity in an Egyptian family

Screening for six Mediterranean mutations in 90 Egyptian patients with phenylketonuria

Molecular analysis of SMN1 and NAIP genes in Egyptian patients with spinal muscular atrophy

Screening of dystrophin gene deletions in Egyptian patients with DMD/BMD muscular dystrophies

Serine 776 of Ataxin-1 Is Critical for Polyglutamine-Induced Disease in SCA1 Transgenic Mice

Microcephalic osteodysplastic primordial dwarfism type II: Additional nine patients with implications on phenotype and genotype correlation

P1219 IMPACT OF IL-28B GENE POLYMORPHISM ON INTRAFAMILIAL TRANSMISSION, AND RESPONSE TO TREATMENT OF HCV. IS IT OF THE SAME IMPORTANCE?

A homozygous mutation in RNU4ATAC as a cause of microcephalic osteodysplastic primordial dwarfism type I (MOPD I) with associated pigmentary disorder

P6A: Role of IL-12B and IL-28B gene polymorphisms in families of HCV infected patients in the Nile Delta of Egypt

Randomized controlled trial protocol to evaluate the effect of an educational intervention using information, motivation and behavioral skills model on sexual satisfaction of new couples in Iran

Schistosoma hematobium soluble egg antigens induce proliferation of urothelial and endothelial cells

Impact of phosphorus loadings on macro-algal communities in the Red Sea coast of Egypt

Seasonal changes in Cystoseira myrica and phosphorus input at two sites of the Red Sea Egyptian Coast

A case of pili torti

Apropos of a case of pili torti

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