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Material Type: Artículo
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Biallelic Mutations in Tetratricopeptide Repeat Domain 26 (Intraflagellar Transport 56) Cause Severe Biliary Ciliopathy in HumansShaheen, Ranad ; Alsahli, Saud ; Ewida, Nour ; Alzahrani, Fatema ; Shamseldin, Hanan E. ; Patel, Nisha ; Al Qahtani, Awad ; Alhebbi, Homoud ; Alhashem, Amal ; Al‐Sheddi, Tarfa ; Alomar, Rana ; Alobeid, Eman ; Abouelhoda, Mohamed ; Monies, Dorota ; Al‐Hussaini, Abdulrahman ; Alzouman, Muneerah A. ; Shagrani, Mohammad ; Faqeih, Eissa ; Alkuraya, Fowzan S.Hepatology (Baltimore, Md.), 2020-06, Vol.71 (6), p.2067-2079 [Revista revisada por pares]United States: Wiley Subscription Services, IncTexto completo disponible |
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2 |
Material Type: Artículo
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β1 Integrin is essential for fascin‐mediated breast cancer stem cell function and disease progressionBarnawi, Rayanah ; Al‐Khaldi, Samiyah ; Colak, Dilek ; Tulbah, Asma ; Al‐Tweigeri, Taher ; Fallatah, Mohannad ; Monies, Dorota ; Ghebeh, Hazem ; Al‐Alwan, MontherInternational journal of cancer, 2019-08, Vol.145 (3), p.830-841 [Revista revisada por pares]Hoboken, USA: John Wiley & Sons, IncTexto completo disponible |
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Material Type: Artículo
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PLACK syndrome is potentially treatable with intralipidsSawan, Zinab A. ; Almehaidib, Ali ; Binamer, Yousef ; Monies, Dorota ; Alsaleem, Khalid A. ; Aldekhail, Wajeeh ; Alkuraya, Fowzan S. ; Abanemai, MohammedClinical genetics, 2021-04, Vol.99 (4), p.572-576 [Revista revisada por pares]Oxford, UK: Blackwell Publishing LtdTexto completo disponible |
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4 |
Material Type: Artículo
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Hematological findings associated with tubulin‐folding cofactors D‐related encephalopathy: Expanding the phenotypeAl‐Bakheet, Albandary ; Tohary, Mohamed ; Khan, Sameena ; Chedrawi, Aziza ; Edrees, Alaa ; Tous, Ehab ; Al‐Mousa, Hamoud ; Al‐Otaibi, Lefian ; AlShahrani, Saif ; Alsagob, Maysoon ; Al‐Quait, Laila ; Almass, Rawan ; Al‐Joudi, Haya ; Monies, Dorota ; Al‐Semari, Abdulaziz ; Aldosary, Mazhor ; Daghestani, Maha ; Colak, Dilek ; Kaya, Namik ; Al‐Owain, MohammedClinical genetics, 2021-05, Vol.99 (5), p.724-731 [Revista revisada por pares]Oxford, UK: Blackwell Publishing LtdTexto completo disponible |
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Material Type: Artículo
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The many faces of peroxisomal disorders: Lessons from a large Arab cohortAlshenaifi, Jumanah ; Ewida, Nour ; Anazi, Shams ; Shamseldin, Hanan E. ; Patel, Nisha ; Maddirevula, Sateesh ; Al‐Sheddi, Tarfa ; Alomar, Rana ; Alobeid, Eman ; Ibrahim, Niema ; Hashem, Mais ; Abdulwahab, Firdous ; Jacob, Minnie ; Alhashem, Amal ; Alzaidan, Hamad I. ; Seidahmed, Mohammed Z. ; Alhashemi, Nadia ; Rawashdeh, Rifaat ; Eyaid, Wafaa ; Al‐Hassnan, Zuhair N. ; Rahbeeni, Zuhair ; Alswaid, Abdulrahman ; Hadid, Adnan ; Qari, Alya ; Mohammed, Dia A. ; El Khashab, Heba Y. ; Alfadhel, Majid ; Abanemai, Mohammad ; Sunbul, Rawda ; Al Tala, Saeed ; Alkhalifi, Salwa ; Alkharfi, Turki ; Abouelhoda, Mohamed ; Monies, Dorota ; Al Tassan, Nada ; AlDubayan, Saud H. ; Kurdi, Wesam ; Al‐Owain, Mohammed ; Dasouki, Majed J. ; Kentab, Amal Y. ; Atyani, Suha ; Makhseed, Nawal ; Faqeih, Eissa ; Shaheen, Ranad ; Alkuraya, Fowzan S.Clinical genetics, 2019-02, Vol.95 (2), p.310-319 [Revista revisada por pares]Oxford, UK: Blackwell Publishing LtdTexto completo disponible |
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Material Type: Artículo
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Further delineation of Temtamy syndrome of corpus callosum and ocular abnormalitiesAlrakaf, Laila ; Al‐Owain, Mohammed A. ; Busehail, Maryam ; Alotaibi, Maha A. ; Monies, Dorota ; Aldhalaan, Hesham M. ; Alhashem, Amal ; Al‐Hassnan, Zuhair N. ; Rahbeeni, Zuhair A. ; Murshedi, Fathiya Al ; Ani, Nadia Al ; Al‐Maawali, Almundher ; Ibrahim, Niema A. ; Abdulwahab, Firdous M. ; Alsagob, Maysoon ; Hashem, Mais O. ; Ramadan, Wafaa ; Abouelhoda, Mohamed ; Meyer, Brian F. ; Kaya, Namik ; Maddirevula, Sateesh ; Alkuraya, Fowzan S.American journal of medical genetics. Part A, 2018-03, Vol.176 (3), p.715-721 [Revista revisada por pares]United States: Wiley Subscription Services, IncTexto completo disponible |
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Material Type: Artículo
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A novel deletion of the MEN1 gene in a large family of multiple endocrine neoplasia type 1 (MEN1) with aggressive phenotypeRaef, Hussein ; Zou, Minjing ; Baitei, Essa Y. ; Al-Rijjal, Roua A. ; Kaya, Namik ; Al-Hamed, Mohamed ; Monies, Dorota ; Abu-Dheim, Nada N. ; Al-Hindi, Hindi ; Al-Ghamdi, Mohammed H. ; Meyer, Brian F. ; Shi, YufeiClinical endocrinology (Oxford), 2011-12, Vol.75 (6), p.791-800 [Revista revisada por pares]Oxford, UK: Blackwell Publishing LtdTexto completo disponible |
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Material Type: Artículo
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Allelic heterogeneity in inbred populations: The Saudi experience with Alström syndrome as an illustrative exampleAldahmesh, Mohamed A. ; Abu‐Safieh, Leen ; Khan, Arif O. ; Al‐Hassnan, Zuhair N. ; Shaheen, Ranad ; Rajab, Mohammed ; Monies, Dorota ; Meyer, Brian F. ; Alkuraya, Fowzan S.American journal of medical genetics. Part A, 2009-04, Vol.149A (4), p.662-665 [Revista revisada por pares]Hoboken: Wiley Subscription Services, Inc., A Wiley CompanyTexto completo disponible |
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Material Type: Artículo
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Congenital disorder of glycosylation IIa: The trouble with diagnosing a dysmorphic inborn error of metabolismAlazami, Anas M. ; Monies, Dorota ; Meyer, Brian F. ; Alzahrani, Fatema ; Hashem, Mais ; Salih, Mustafa A. ; Alkuraya, Fowzan S.American journal of medical genetics. Part A, 2012-01, Vol.158A (1), p.245-246 [Revista revisada por pares]Hoboken: Wiley Subscription Services, Inc., A Wiley CompanyTexto completo disponible |
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Material Type: Artículo
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Congenital Disorder of Glycosylation Ila: The Trouble With Diagnosing a Dysmorphic Inborn Error of MetabolismALAZAMI, Anas M ; MONIES, Dorota ; MEYER, Brian F ; ALZAHRANI, Fatema ; HASHEM, Mais ; SALIH, Mustafa A ; ALKURAYA, Fowzan SAmerican journal of medical genetics. Part A, 2012, Vol.158 (1), p.245-246 [Revista revisada por pares]Chichester: Wiley-LissTexto completo disponible |