WorldCat Identities

Alkuraya, Fowzan S.

Overview
Works: 43 works in 45 publications in 1 language and 271 library holdings
Genres: Textbooks 
Roles: Editor, Other, Contributor, Author
Classifications: QH447, 572.86
Publication Timeline
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Most widely held works by Fowzan S Alkuraya
Clinical genomics : practical applications in adult patient care( )

3 editions published in 2014 in English and held by 191 WorldCat member libraries worldwide

The first book on the clinical application of genetics in primary care medicine, Clinical Genomics focuses on the everyday application of genetic assessment and its diagnostic, therapeutic, and preventive implications in clinical practice. Unlike traditional textbooks on medical genetics and dysmorphology, this is a clinical reference that covers many of the common diseases seen in everyday medical practice. Features: endorsed by the American College of Physicians; addresses the genetic basis of common chronic diseases, not just the classic diseases of dysmorphology
Expanding the spectrum of germline variants in cancer by Abdul K Siraj( )

1 edition published in 2017 in English and held by 2 WorldCat member libraries worldwide

Autozygome and high throughput confirmation of disease genes candidacy by Sateesh Maddirevula( )

1 edition published in 2018 in English and held by 2 WorldCat member libraries worldwide

Publisher Correction: Deletion of DDB1- and CUL4- associated factor-17 (Dcaf17) gene causes spermatogenesis defects and male infertility in mice by Asmaa Ali( )

1 edition published in 2018 in English and held by 2 WorldCat member libraries worldwide

Discovery of mutations for Mendelian disorders by Fowzan S Alkuraya( )

1 edition published in 2016 in English and held by 2 WorldCat member libraries worldwide

Expanding the phenome and variome of skeletal dysplasia by Sateesh Maddirevula( )

1 edition published in 2018 in English and held by 2 WorldCat member libraries worldwide

A novel mechanism for variable phenotypic expressivity in Mendelian diseases uncovered by an AU-rich element (ARE)-creating mutation by Nisha Patel( )

1 edition published in 2017 in English and held by 2 WorldCat member libraries worldwide

Phenotype variability of infantile-onset multisystem neurologic, endocrine, and pancreatic disease IMNEPD by Sylvie Picker-Minh( )

1 edition published in 2016 in English and held by 2 WorldCat member libraries worldwide

ANKS3 is mutated in a family with autosomal recessive laterality defect by Hanan E Shamseldin( )

1 edition published in 2016 in English and held by 2 WorldCat member libraries worldwide

Congenital glaucoma and CYP1B1: an old story revisited by Hessa S Alsaif( )

1 edition published in 2018 in English and held by 2 WorldCat member libraries worldwide

Characterizing the morbid genome of ciliopathies by Ciliopathy WorkingGroup( )

1 edition published in 2016 in English and held by 2 WorldCat member libraries worldwide

The journey of exome sequencing from disease mutations discovery to clinical genomics by Fowzan S Alkuraya( )

1 edition published in 2016 in English and held by 2 WorldCat member libraries worldwide

On the phenotypic spectrum of serine biosynthesis defects by Ayman W El-Hattab( )

1 edition published in 2016 in English and held by 2 WorldCat member libraries worldwide

A null mutation in TNIK defines a novel locus for intellectual disability by Shams Anazi( )

1 edition published in 2016 in English and held by 2 WorldCat member libraries worldwide

De novo truncating variants in WHSC1 recapitulate the Wolf-Hirschhorn (4p16.3 microdeletion) syndrome phenotype by Nada Derar( )

1 edition published in 2018 in English and held by 2 WorldCat member libraries worldwide

KDF1, encoding keratinocyte differentiation factor 1, is mutated in a multigenerational family with ectodermal dysplasia by Hanan E Shamseldin( )

1 edition published in 2016 in English and held by 2 WorldCat member libraries worldwide

Homozygous KCNMA1 mutation as a cause of cerebellar atrophy, developmental delay and seizures by Brahim Tabarki( )

1 edition published in 2016 in English and held by 2 WorldCat member libraries worldwide

NUP214 deficiency causes severe encephalopathy and microcephaly in humans by Hanan E Shamseldin( )

1 edition published in 2019 in English and held by 2 WorldCat member libraries worldwide

Treatment of retinitis pigmentosa due to MERTK mutations by ocular subretinal injection of adeno-associated virus gene vector: results of a phase I trial by Nicola G Ghazi( )

1 edition published in 2016 in English and held by 2 WorldCat member libraries worldwide

Expanding the genetic heterogeneity of intellectual disability by Shams Anazi( )

1 edition published in 2017 in English and held by 2 WorldCat member libraries worldwide

 
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Audience Level
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  Kids General Special  
Audience level: 0.52 (from 0.43 for Clinical g ... to 0.97 for Clinical g ...)

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Languages
English (22)