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Publications by Sarah M Nikkel

Meconium Ileus in a Lebanese Family Secondary to Mutations in the GUCY2C Gene

European Journal of Human Genetics
Genetics
2014English

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Meconium Ileus Caused by Mutations in GUCY2C, Encoding the CFTR-Activating Guanylate Cyclase 2C

American Journal of Human Genetics
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2012English

The Pathology of Meconium Ileus Equivalent

Journal of Clinical Pathology
MedicineForensic MedicinePathology
1984English

Immunoreactive Trypsinogen Concentrations in Infants With Meconium Ileus.

BMJ
1991English

Neonatal Lower GIS Obstruction With Typical Radiographic Findings: Meconium Ileus

Türk Radyoloji Dergisi/Turkish Journal of Radiology
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Mutations in a Member of the ADAMTS Gene Family Cause Thrombotic Thrombocytopenic Purpura

Nature
Multidisciplinary
2001English

Ellis-Van Creveld Syndrome: Mutations Uncovered in Lebanese Families

Case Reports in Genetics
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Compound Heterozygous Mutations in the Muscle Chloride Channel Gene (CLCN1) in a Japanese Family With Thomsen’s Disease

Clinical Neurology
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2013English

Incidence of Alpha-Globin Gene Defect in the Lebanese Population: A Pilot Study

BioMed Research International
ImmunologyMolecular BiologyBiochemistryMicrobiology MedicineGenetics
2015English

Gene Expression Profiling of Breast Cancer in Lebanese Women

Scientific Reports
Multidisciplinary
2016English

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