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Refinado por: assunto: Pedigree remover
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Truncating ARL6IP1 variant as the genetic cause of fatal complicated hereditary spastic paraplegia
Truncating ARL6IP1 variant as the genetic cause of fatal complicated hereditary spastic paraplegia
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Truncating ARL6IP1 variant as the genetic cause of fatal complicated hereditary spastic paraplegia

Wakil, Salma M ; Alhissi, Safa ; Al Dossari, Haya ; Alqahtani, Ayesha ; Shibin, Sherin ; Melaiki, Brahim T ; Finsterer, Josef ; Al-Hashem, Amal ; Bohlega, Saeed ; Alazami, Anas M

BMC medical genetics, 2019-07, Vol.20 (1), p.119-119, Article 119 [Periódico revisado por pares]

England: BioMed Central Ltd

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2
LGMD1D myopathy with cytoplasmic and nuclear inclusions in a Saudi family due to DNAJB6 mutation
LGMD1D myopathy with cytoplasmic and nuclear inclusions in a Saudi family due to DNAJB6 mutation
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LGMD1D myopathy with cytoplasmic and nuclear inclusions in a Saudi family due to DNAJB6 mutation

BOHLEGA, SAEED A. ; ALFAWAZ, SARAH ; ABOU-AL-SHAAR, HUSSAM ; AL-HINDI, HINDI N. ; MURAD, HATEM N. ; BOHLEGA, MOHAMED S. ; MEYER, BRIAN F. ; MONIES, DOROTA

Acta myologica, 2018-09, Vol.37 (3), p.221-226 [Periódico revisado por pares]

Pacini Editore srl

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3
Clinical heterogeneity of PLA2G6-related Parkinsonism: analysis of two Saudi families
Clinical heterogeneity of PLA2G6-related Parkinsonism: analysis of two Saudi families
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Clinical heterogeneity of PLA2G6-related Parkinsonism: analysis of two Saudi families

Bohlega, Saeed A ; Al-Mubarak, Bashayer R ; Alyemni, Eman A ; Abouelhoda, Mohamed ; Monies, Dorota ; Mustafa, Abeer E ; Khalil, Dania S ; Al Haibi, Sara ; Abou Al-Shaar, Hussam ; Faquih, Tariq ; El-Kalioby, Mohamed ; Tahir, Asma I ; Al Tassan, Nada A

BMC research notes, 2016-06, Vol.9 (1), p.295-295, Article 295 [Periódico revisado por pares]

England: BioMed Central Ltd

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4
Clinical and molecular characterization of ataxia with oculomotor apraxia patients in Saudi Arabia
Clinical and molecular characterization of ataxia with oculomotor apraxia patients in Saudi Arabia
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Clinical and molecular characterization of ataxia with oculomotor apraxia patients in Saudi Arabia

Bohlega, Saeed A ; Shinwari, Jameela M ; Al Sharif, Latifa J ; Khalil, Dania S ; Alkhairallah, Thamer S ; Al Tassan, Nada A

BMC medical genetics, 2011-02, Vol.12 (1), p.27-27, Article 27 [Periódico revisado por pares]

England: BioMed Central Ltd

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5
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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6
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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7
Phenotypic comparison of individuals with homozygous or heterozygous mutation of NOTCH3 in a large CADASIL family
Phenotypic comparison of individuals with homozygous or heterozygous mutation of NOTCH3 in a large CADASIL family
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Phenotypic comparison of individuals with homozygous or heterozygous mutation of NOTCH3 in a large CADASIL family

Al-Shaar, Hussam Abou ; Qadi, Najeeb ; Ahmed, Mohammed ; Meyer, Brian F ; Bohlega, Saeed

Journal of the neurological sciences, 2016-08, Vol.367, p.239-243 [Periódico revisado por pares]

Netherlands: Elsevier B.V

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8
CADASIL in Arabs: clinical and genetic findings
CADASIL in Arabs: clinical and genetic findings
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CADASIL in Arabs: clinical and genetic findings

Bohlega, Saeed ; Al Shubili, Asmahan ; Edris, Abdulrahman ; Alreshaid, Abdulrahman ; Alkhairallah, Thamer ; AlSous, M Walid ; Farah, Samir ; Abu-Amero, Khaled K

BMC medical genetics, 2007-11, Vol.8 (1), p.67-67, Article 67 [Periódico revisado por pares]

England: BioMed Central Ltd

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9
Mutation of fibulin-1 causes a novel syndrome involving the central nervous system and connective tissues
Mutation of fibulin-1 causes a novel syndrome involving the central nervous system and connective tissues
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Mutation of fibulin-1 causes a novel syndrome involving the central nervous system and connective tissues

Bohlega, Saeed ; Al-Ajlan, Huda ; Al-Saif, Amr

European journal of human genetics : EJHG, 2014-05, Vol.22 (5), p.640-643 [Periódico revisado por pares]

England: Nature Publishing Group

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10
Accelerating Novel Candidate Gene Discovery in Neurogenetic Disorders via Whole-Exome Sequencing of Prescreened Multiplex Consanguineous Families
Accelerating Novel Candidate Gene Discovery in Neurogenetic Disorders via Whole-Exome Sequencing of Prescreened Multiplex Consanguineous Families
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Accelerating Novel Candidate Gene Discovery in Neurogenetic Disorders via Whole-Exome Sequencing of Prescreened Multiplex Consanguineous Families

Alazami, Anas M. ; Patel, Nisha ; Shamseldin, Hanan E. ; Anazi, Shamsa ; Al-Dosari, Mohammed S. ; Alzahrani, Fatema ; Hijazi, Hadia ; Alshammari, Muneera ; Aldahmesh, Mohammed A. ; Salih, Mustafa A. ; Faqeih, Eissa ; Alhashem, Amal ; Bashiri, Fahad A. ; Al-Owain, Mohammed ; Kentab, Amal Y. ; Sogaty, Sameera ; Al Tala, Saeed ; Temsah, Mohamad-Hani ; Tulbah, Maha ; Aljelaify, Rasha F. ; Alshahwan, Saad A. ; Seidahmed, Mohammed Zain ; Alhadid, Adnan A. ; Aldhalaan, Hesham ; AlQallaf, Fatema ; Kurdi, Wesam ; Alfadhel, Majid ; Babay, Zainab ; Alsogheer, Mohammad ; Kaya, Namik ; Al-Hassnan, Zuhair N. ; Abdel-Salam, Ghada M.H. ; Al-Sannaa, Nouriya ; Al Mutairi, Fuad ; El Khashab, Heba Y. ; Bohlega, Saeed ; Jia, Xiaofei ; Nguyen, Henry C. ; Hammami, Rakad ; Adly, Nouran ; Mohamed, Jawahir Y. ; Abdulwahab, Firdous ; Ibrahim, Niema ; Naim, Ewa A. ; Al-Younes, Banan ; Meyer, Brian F. ; Hashem, Mais ; Shaheen, Ranad ; Xiong, Yong ; Abouelhoda, Mohamed ; Aldeeri, Abdulrahman A. ; Monies, Dorota M. ; Alkuraya, Fowzan S.

Cell reports (Cambridge), 2015-01, Vol.10 (2), p.148-161 [Periódico revisado por pares]

United States: Elsevier Inc

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