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Refinado por: tipo de recurso: Reports remover
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1
SARS-CoV-2-Related Acute Respiratory Distress Syndrome Uncovers a Patient with Severe Combined Immunodeficiency Disease
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Report
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SARS-CoV-2-Related Acute Respiratory Distress Syndrome Uncovers a Patient with Severe Combined Immunodeficiency Disease

Al-Saud, Bandar ; Hazzazi, Khaled M ; Mohammed, Reem ; Al Najjar, Alaa ; Al Hazmi, Tariq ; Monies, Dorota ; Alkuraya, Fowzan S

Journal of clinical immunology, 2021, Vol.41 (7), p.1507-1510

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2
Exome Sequencing: Mutilating Sensory Neuropathy with Spastic Paraplegia due to a Mutation in FAM134B Gene
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Report
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Exome Sequencing: Mutilating Sensory Neuropathy with Spastic Paraplegia due to a Mutation in FAM134B Gene

Wakil, Salma M ; Monies, Dorota ; Hagos, Samya ; Al-Ajlan, Fahad ; Finsterer, Josef ; Al Qahtani, Aisha ; Ramzan, Khushnooda ; Al Humaidy, Rawan ; Al-Muhaizea, Mohamed A ; Meyer, Brian ; Bohlega, Saeed A

Case reports in genetics, 2018, Vol.2018, p.9468049-9468049

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3
Allelic heterogeneity in inbred populations: The Saudi experience with Alström syndrome as an illustrative example
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Report
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Allelic heterogeneity in inbred populations: The Saudi experience with Alström syndrome as an illustrative example

Aldahmesh, 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, Vol.149A (4), p.662-665

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

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