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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
A novel splice site mutation in ERLIN2 causes hereditary spastic paraplegia in a Saudi family
A novel splice site mutation in ERLIN2 causes hereditary spastic paraplegia in a Saudi family
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A novel splice site mutation in ERLIN2 causes hereditary spastic paraplegia in a Saudi family

Wakil, Salma M ; Bohlega, Saeed ; Hagos, Samya ; Baz, Batoul ; Al Dossari, Haya ; Ramzan, Khushnooda ; Al-Hassnan, Zuhair N

European journal of medical genetics, 2013-01, Vol.56 (1), p.43-45 [Periódico revisado por pares]

Netherlands: Elsevier Masson SAS

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3
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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4
Clinical and pathological heterogeneity of a congenital disorder of glycosylation manifesting as a myasthenic/myopathic syndrome
Clinical and pathological heterogeneity of a congenital disorder of glycosylation manifesting as a myasthenic/myopathic syndrome
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Clinical and pathological heterogeneity of a congenital disorder of glycosylation manifesting as a myasthenic/myopathic syndrome

Monies, Dorota M ; Al-Hindi, Hindi N ; Al-Muhaizea, Mohamed A ; Jaroudi, Dyala J ; Al-Younes, Banan ; Naim, Ewa A ; Wakil, Salma M ; Meyer, Brian F ; Bohlega, Saeed

Neuromuscular disorders : NMD, 2014-04, Vol.24 (4), p.353-359 [Periódico revisado por pares]

England: Elsevier B.V

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5
Association of a Mutation in LACC1 With a Monogenic Form of Systemic Juvenile Idiopathic Arthritis
Association of a Mutation in LACC1 With a Monogenic Form of Systemic Juvenile Idiopathic Arthritis
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Association of a Mutation in LACC1 With a Monogenic Form of Systemic Juvenile Idiopathic Arthritis

Wakil, Salma M. ; Monies, Dorota M. ; Abouelhoda, Mohamed ; Al‐Tassan, Nada ; Al‐Dusery, Haya ; Naim, Ewa A. ; Al‐Younes, Banan ; Shinwari, Jameela ; Al‐Mohanna, Futwan A. ; Meyer, Brian F. ; Al‐Mayouf, Sulaiman

Arthritis & rheumatology (Hoboken, N.J.), 2015-01, Vol.67 (1), p.288-295 [Periódico revisado por pares]

United States: Wiley Subscription Services, Inc

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6
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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7
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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8
Whole-genome SNP genotyping mapped a novel locus for hereditary hypotrichosis on chromosome 2q31.1–q32.2
Whole-genome SNP genotyping mapped a novel locus for hereditary hypotrichosis on chromosome 2q31.1–q32.2
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Whole-genome SNP genotyping mapped a novel locus for hereditary hypotrichosis on chromosome 2q31.1–q32.2

Jan, Abid ; Basit, Sulman ; Wakil, Salma M ; Ramzan, Khushnooda ; Ahmad, Wasim

Journal of dermatological science, 2015-08, Vol.79 (2), p.173-175 [Periódico revisado por pares]

Netherlands: Elsevier Ireland Ltd

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9
A novel homozygous variant in the dsp gene underlies the first case of non-syndromic form of alopecia
A novel homozygous variant in the dsp gene underlies the first case of non-syndromic form of alopecia
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A novel homozygous variant in the dsp gene underlies the first case of non-syndromic form of alopecia

Jan, Abid ; Basit, Sulman ; Wakil, Salma M. ; Ramzan, Khushnooda ; Ahmad, Wasim

Archives of Dermatological Research, 2015-11, Vol.307 (9), p.793-801 [Periódico revisado por pares]

Berlin/Heidelberg: Springer Berlin Heidelberg

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10
A substitution mutation in cardiac ubiquitin ligase, FBXO32, is associated with an autosomal recessive form of dilated cardiomyopathy
A substitution mutation in cardiac ubiquitin ligase, FBXO32, is associated with an autosomal recessive form of dilated cardiomyopathy
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A substitution mutation in cardiac ubiquitin ligase, FBXO32, is associated with an autosomal recessive form of dilated cardiomyopathy

Al-Hassnan, Zuhair N ; Shinwari, Zarghuna Ma ; Wakil, Salma M ; Tulbah, Sahar ; Mohammed, Shamayel ; Rahbeeni, Zuhair ; Alghamdi, Mohammed ; Rababh, Monther ; Colak, Dilek ; Kaya, Namik ; Al-Fayyadh, Majid ; Alburaiki, Jehad

BMC medical genetics, 2016-01, Vol.17 (1), p.3-3, Article 3 [Periódico revisado por pares]

England: BioMed Central Ltd

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