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Mohammad Keramatipour

Tehran University of Medical Sciences

63

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The importance of CDC27 in cancer: molecular pathology and clinical aspects.

2021 Cancer Cell International
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X-linked SCID with a rare mutation.

2021 Allergy, Asthma & Clinical Immunology
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SPOAN syndrome: a novel mutation and new ocular findings; a case report.

2021 BMC Neurology
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Identification of a novel truncating variant in AHI1 gene and a brief review on mutations spectrum.

2021 Molecular Biology Reports
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Whole-Exome Sequencing Identified a Novel Variant (C.405_422+39del) in DSP Gene in an Iranian Pedigree with Familial Dilated Cardiomyopathy

2021
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Whole Exome Sequencing Reveals a XPNPEP3 Novel Mutation Causing Nephronophthisis in a Pediatric Patient.

2020 Iranian biomedical journal
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Three Novel Variants identified in FBN1 and TGFBR2 in seven Iranian families with suspected Marfan syndrome.

2020 Molecular Genetics & Genomic Medicine
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Genetic Mutations and Immunological Features of Severe Combined Immunodeficiency Patients in Iran

2019 Immunology Letters
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CRB1-Related Leber Congenital Amaurosis: Reporting Novel Pathogenic Variants and a Brief Review on Mutations Spectrum

2019 Iranian biomedical journal
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Identification of a Novel Mutation in CNNM4 Gene in an Iranian Family with Jalili Syndrome

2019 Qom University of Medical Sciences Journal
- Mohammad Ghofrani
- Mohammad Keramatipour
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