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Syndromic congenital sensorineural deafness, microtia and microdontia resulting from a novel homoallelic mutation in fibroblast growth factor 3 ( )
Syndromic congenital sensorineural deafness, microtia and microdontia resulting from a novel homoallelic mutation in fibroblast growth factor 3 ( )
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Syndromic congenital sensorineural deafness, microtia and microdontia resulting from a novel homoallelic mutation in fibroblast growth factor 3 ( )

ALSMADI, Osama ; MEYER, Brian F ; ALKURAYA, Fowzan ; WAKIL, Salma ; ALKAYAL, Fadi ; AL-SAUD, Haya ; RAMZAN, Khushnooda ; AL-SAYED, Moeenaldeen

European journal of human genetics : EJHG, 2009-01, Vol.17 (1), p.14-21 [Periódico revisado por pares]

Basingstoke: Nature Publishing Group

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2
Infantile-onset ascending hereditary spastic paraplegia with bulbar involvement due to the novel ALS2 mutation c.2761C>T
Infantile-onset ascending hereditary spastic paraplegia with bulbar involvement due to the novel ALS2 mutation c.2761C>T
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Infantile-onset ascending hereditary spastic paraplegia with bulbar involvement due to the novel ALS2 mutation c.2761C>T

Wakil, Salma M. ; Ramzan, Khushnooda ; Abuthuraya, Rula ; Hagos, Samya ; Al-Dossari, Haya ; Al-Omar, Rana ; Murad, Hatem ; Chedrawi, Aziza ; Al-Hassnan, Zuhair N. ; Finsterer, Josef ; Bohlega, Saeed

Gene, 2014-02, Vol.536 (1), p.217-220 [Periódico revisado por pares]

Netherlands: Elsevier B.V

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3
A novel APC mutation defines a second locus for Cenani–Lenz syndrome
A novel APC mutation defines a second locus for Cenani–Lenz syndrome
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A novel APC mutation defines a second locus for Cenani–Lenz syndrome

Patel, Nisha ; Faqeih, Eissa ; Anazi, Shams ; Alfawareh, Mohammad ; Wakil, Salma M ; Colak, Dilek ; Alkuraya, Fowzan S

Journal of medical genetics, 2015-05, Vol.52 (5), p.317-321 [Periódico revisado por pares]

England: BMJ Publishing Group LTD

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4
Positional mapping of PRKD1, NRP1 and PRDM1 as novel candidate disease genes in truncus arteriosus
Positional mapping of PRKD1, NRP1 and PRDM1 as novel candidate disease genes in truncus arteriosus
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Positional mapping of PRKD1, NRP1 and PRDM1 as novel candidate disease genes in truncus arteriosus

Shaheen, Ranad ; Al Hashem, Amal ; Alghamdi, Mohammed H ; Seidahmad, Mohammed Zain ; Wakil, Salma M ; Dagriri, Khalid ; Keavney, Bernard ; Goodship, Judith ; Alyousif, Saad ; Al-Habshan, Fahad M ; Alhussein, Khalid ; Almoisheer, Agaadir ; Ibrahim, Niema ; Alkuraya, Fowzan S

Journal of medical genetics, 2015-05, Vol.52 (5), p.322-329 [Periódico revisado por pares]

England: BMJ Publishing Group LTD

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5
Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases
Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases
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Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases

Genome Biology, 2015-06, Vol.16 (1), p.134-134, Article 134 [Periódico revisado por pares]

England: BioMed Central

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6
Novel mutations in TGM1 and ABCA12 cause autosomal recessive congenital ichthyosis in five Saudi families
Novel mutations in TGM1 and ABCA12 cause autosomal recessive congenital ichthyosis in five Saudi families
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Novel mutations in TGM1 and ABCA12 cause autosomal recessive congenital ichthyosis in five Saudi families

Wakil, Salma M. ; Binamer, Yousef ; Al-Dossari, Haya ; Al-Humaidy, Rawan ; Thuraya, Rula Al ; Khalifa, Ola ; Finsterer, Josef ; Meyer, Brian F. ; Al Owain, Mohammed

International journal of dermatology, 2016-06, Vol.55 (6), p.673-679 [Periódico revisado por pares]

England: Blackwell Publishing Ltd

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7
Novel homozygous sequence variants in the CDH3 gene encoding P-cadherin underlying hypotrichosis with juvenile macular dystrophy in consanguineous families
Novel homozygous sequence variants in the CDH3 gene encoding P-cadherin underlying hypotrichosis with juvenile macular dystrophy in consanguineous families
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Novel homozygous sequence variants in the CDH3 gene encoding P-cadherin underlying hypotrichosis with juvenile macular dystrophy in consanguineous families

Ahmad, Farooq ; Ali, Raja Hussain ; Muhammad, Dost ; Nasir, Abdul ; Umair, Muhammad ; Wakil, Salma M. ; Ramzan, Khushnooda ; Basit, Sulman ; Ahmad, Wasim

EJD. European journal of dermatology, 2016-11, Vol.26 (6), p.610-612 [Periódico revisado por pares]

Paris: John Libbey Eurotext

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8
Exome sequencing identifies novel NTRK1 mutations in patients with HSAN‐IV phenotype
Exome sequencing identifies novel NTRK1 mutations in patients with HSAN‐IV phenotype
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Exome sequencing identifies novel NTRK1 mutations in patients with HSAN‐IV phenotype

Altassan, Ruqaiah ; Saud, Haya Al ; Masoodi, Tariq Ahmad ; Dosssari, Haya Al ; Khalifa, Ola ; Al‐Zaidan, Hamad ; Sakati, Nadia ; Rhabeeni, Zuhair ; Al‐Hassnan, Zuhair ; Binamer, Yousef ; Alhashemi, Nadia ; Wade, William ; Al‐Zayed, Zayed ; Al‐Sayed, Moeen ; Al‐Muhaizea, Mohamed A. ; Meyer, Brian ; Al‐Owain, Mohammad ; Wakil, Salma M.

American journal of medical genetics. Part A, 2017-04, Vol.173 (4), p.1009-1016 [Periódico revisado por pares]

United States: Wiley Subscription Services, Inc

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