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Search Results - Ben‐Harouch, Shani
Search Results - Ben‐Harouch, Shani
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COG6‐CDG: Expanding the phenotype with emphasis on glycosylation defects involved in the causation of male disorders of sex development
by
Mandel, Hanna
,
Cohen Kfir, Nehama
,
Fedida, Ayalla
,
Shuster Biton, Efrat
,
Odeh, Marwan
,
Kalfon, Limor
,
Ben‐Harouch, Shani
,
Fleischer Sheffer, Vered
,
Hoffman, Yoav
,
Goldberg, Yael
,
Dinwiddie, April
,
Dumin, Elena
,
Eran, Ayelet
,
Apel‐Sarid, Liat
,
Tiosano, Dov
,
Falik‐Zaccai, Tzipora C.
Published in
Clinical genetics
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Sedaghatian-type spondylometaphyseal dysplasia: Whole exome sequencing in neonatal dry blood spots enabled identification of a novel variant in GPX4
by
Fedida, Ayalla
,
Ben Harouch, Shani
,
Kalfon, Limor
,
Abunassar, Zahi
,
Omari, Hussam
,
Mandel, Hanna
,
Falik-Zaccai, Tzipora C.
Published in
European journal of medical genetics
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Walker-Warburg syndrome and tectocerebellar dysraphia: A novel association caused by a homozygous DAG1 mutation
by
Leibovitz, Zvi
,
Mandel, Hanna
,
Falik-Zaccai, Tzipora C.
,
Ben Harouch, Shani
,
Savitzki, David
,
Krajden-Haratz, Karina
,
Gindes, Liat
,
Tamarkin, Mordechai
,
Lev, Dorit
,
Dobyns, William B.
,
Lerman-Sagie, Tally
Published in
European journal of paediatric neurology
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Clinical Genetics
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European Journal Of Medical Genetics
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European Journal Of Paediatric Neurology
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Life Sciences & Biomedicine
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Science & Technology
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Female
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Genetics & Heredity
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Homozygote
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Humans
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Male
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Brain - Diagnostic Imaging
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Brain - Pathology
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Clinical Neurology
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Cobblestone Malformation Complex
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Cog6
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Congenital Disorder Of Glycosylation
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Consanguinity
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Dag1
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Differences Of Sex Development
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Disorder Of Sex Development
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Dried Blood Spot Testing
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Dry Blood Spots
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Dystroglycan
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Science Direct
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Sciencedirect Freedom Collection
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Wiley Online (Archive)
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Science Citation Index Expanded (Web Of Science)
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