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Search Results - Mossad, Fawzya
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Clinical, biomarker and genetic spectrum of Niemann‐Pick type C in Egypt: The detection of nine novel NPC1 mutations
by
Mahmoud, Iman G.
,
Elmonem, Mohamed A.
,
Elkhateeb, Nour M.
,
Elnaggar, Walaa
,
Sobhi, Ahmed
,
Girgis, Marian Y.
,
Kamel, Mona
,
Shaheen, Yara
,
Samaha, Mona
,
Ramadan, Areef
,
Zaki, Maha S.
,
El‐Hawary, Bahaa
,
Hassan, Sawsan A.
,
Khalifa, Iman A.
,
Mossad, Fawzya
,
Al‐Menabawy, Nihal M.
,
Zielke, Susanne
,
Gleeson, Joseph G.
,
Rolfs, Arndt
,
Selim, Laila A.
Published in
Clinical genetics
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Clinical Genetics
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Biomarkers
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Egypt
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Genetic Association Studies - Methods
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Genetic Predisposition To Disease
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Genetics & Heredity
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Humans
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Intracellular Signaling Peptides And Proteins - Genetics
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Life Sciences & Biomedicine
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Mutation
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Niemann-Pick Disease, Type C - Diagnosis
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Niemann-Pick Disease, Type C - Genetics
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Npc1 Protein
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Phenotype
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Science & Technology
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Whole Exome Sequencing
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Wiley-Blackwell Journals
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