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Refinado por: assunto: Homozygote remover
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1
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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2
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, 2019-07-04, Vol.20 (1), p.119-119 [Periódico revisado por pares]

England: BioMed Central Ltd

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3
Mutations in NHLRC1 cause progressive myoclonus epilepsy
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Mutations in NHLRC1 cause progressive myoclonus epilepsy

Andermann, Eva ; Rouleau, Guy A ; Young, Edwin J ; Zhao, Xiaochu ; Avanzini, Giuliano ; Minassian, Berge A ; Munteanu, Iulia ; Elia, Maurizio ; Ianzano, Leonarda ; Chan, Elayne M ; Scherer, Stephen W ; Jovic, Nebojsa J ; Delgado-Escueta, Antonio V ; Christopoulos, Constantine C ; Ackerley, Cameron A ; Bohlega, Saeed

Nature genetics, 2003-10, Vol.35 (2), p.125-127 [Periódico revisado por pares]

London: Nature Publishing Group

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4
Mutations in C2orf37, Encoding a Nucleolar Protein, Cause Hypogonadism, Alopecia, Diabetes Mellitus, Mental Retardation, and Extrapyramidal Syndrome
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Mutations in C2orf37, Encoding a Nucleolar Protein, Cause Hypogonadism, Alopecia, Diabetes Mellitus, Mental Retardation, and Extrapyramidal Syndrome

Alazami, Anas M ; Al-Saif, Amr ; Al-Semari, Abdulaziz ; Bohlega, Saeed ; Zlitni, Soumaya ; Alzahrani, Fatema ; Bavi, Prashant ; Kaya, Namik ; Colak, Dilek ; Khalak, Hanif ; Baltus, Andy ; Peterlin, Borut ; Danda, Sumita ; Bhatia, Kailash P ; Schneider, Susanne A ; Sakati, Nadia ; Walsh, Christopher A ; Al-Mohanna, Futwan ; Meyer, Brian ; Alkuraya, Fowzan S

American journal of human genetics, 2008-12-12, Vol.83 (6), p.684-691 [Periódico revisado por pares]

United States: Elsevier Inc

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5
A missense mutation in PIK3R5 gene in a family with ataxia and oculomotor apraxia
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A missense mutation in PIK3R5 gene in a family with ataxia and oculomotor apraxia

Al Tassan, Nada ; Khalil, Dania ; Shinwari, Jameela ; Al Sharif, Latifa ; Bavi, Prashant ; Abduljaleel, Zainularifeen ; Abu Dhaim, Nada ; Magrashi, Amna ; Bobis, Steve ; Ahmed, Hala ; AlAhmed, Samaher ; Bohlega, Saeed

Human mutation, 2012-02, Vol.33 (2), p.351-354 [Periódico revisado por pares]

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

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6
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, 2015, Vol.367, p.239-243 [Periódico revisado por pares]

Netherlands: Elsevier B.V

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7
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), 2015-01-13, Vol.10 (2), p.148-161 [Periódico revisado por pares]

United States: Elsevier Inc

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8
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, 2012, Vol.56 (1), p.43-45 [Periódico revisado por pares]

Netherlands: Elsevier Masson SAS

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9
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, 2016-06-07, Vol.9 (1), p.295-295 [Periódico revisado por pares]

England: BioMed Central Ltd

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10
T313M PINK1 Mutation in an Extended Highly Consanguineous Saudi Family With Early-Onset Parkinson Disease
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T313M PINK1 Mutation in an Extended Highly Consanguineous Saudi Family With Early-Onset Parkinson Disease

Chishti, Muhammad A ; Bohlega, Saeed ; Ahmed, Maqbool ; Loualich, Arslan ; Carroll, Pamela ; Sato, Christine ; St George-Hyslop, Peter ; Westaway, David ; Rogaeva, Ekaterina

Archives of neurology (Chicago), 2006-10-01, Vol.63 (10), p.1483-1485

Chicago, IL: American Medical Association

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