Homozygous Missense Variation in PNPLA8 Causes Prenatal-Onset Severe Neurodegeneration
Masih, Suzena, Moirangthem, Amita, Phadke, Shubha R.
Published in Molecular syndromology (01.06.2021)
Published in Molecular syndromology (01.06.2021)
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Journal Article
Renpenning syndrome in an Indian patient
Masih, Suzena, Moirangthem, Amita, Phadke, Shubha R.
Published in American journal of medical genetics. Part A (01.02.2020)
Published in American journal of medical genetics. Part A (01.02.2020)
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Journal Article
Genomic Variations in ATP7B Gene in Indian Patients with Wilson Disease
Nagral, Aabha, Mallakmir, Snehal, Garg, Nikita, Tiwari, Kritika, Masih, Suzena, Nagral, Nishtha, Unavane, Ojas, Jhaveri, Ajay, Phadke, Shubha, ArunKumar, GaneshPrasad, Aggarwal, Rakesh
Published in Indian journal of pediatrics (01.03.2023)
Published in Indian journal of pediatrics (01.03.2023)
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Journal Article
Variable neurological phenotypes of homocystinuria caused by biallelic methylenetetrahydrofolate reductase variants
Moirangthem, Amita, Saxena, Deepti, Masih, Suzena, Shambhavi, Arya, Nilay, Mayank, Phadke, Shubha R
Published in Clinical dysmorphology (01.04.2022)
Published in Clinical dysmorphology (01.04.2022)
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Journal Article
Deciphering the molecular landscape of microcephaly in 87 Indian families by exome sequencing
Masih, Suzena, Moirangthem, Amita, Shambhavi, Arya, Rai, Archana, Mandal, Kausik, Saxena, Deepti, Nilay, Mayank, Agrawal, Neha, Srivastava, Somya, Sait, Haseena, Phadke, Shubha R.
Published in European journal of medical genetics (01.06.2022)
Published in European journal of medical genetics (01.06.2022)
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Molecular analysis of severe hemophilia B in Indian families: Identification of mutational hotspot and novel variants
Agrawal, Neha, Kumar, Ravi, Masih, Suzena, Srivastava, Priyanka, Singh, Parshw, Jaiswal, Sushil Kumar, Moirangthem, Amita, Saxena, Deepti, Phadke, Shubha R., Mandal, Kausik
Published in International journal of laboratory hematology (01.02.2022)
Published in International journal of laboratory hematology (01.02.2022)
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Journal Article
COASY related pontocerebellar hypoplasia type 12: A common Indian mutation with expansion of the phenotypic spectrum
Mishra, Ranjana, Kulshreshtha, Samarth, Mandal, Kausik, Khurana, Ashok, Diego‐Álvarez, Dan, Pradas, Laura, Saxena, Renu, Phadke, Shubha, Moirangthem, Amita, Masih, Suzena, Sud, Seema, Verma, Ishwar Chander, Dua Puri, Ratna
Published in American journal of medical genetics. Part A (01.08.2022)
Published in American journal of medical genetics. Part A (01.08.2022)
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