Spectrum of amyloglucosidase mutations in Asian Indian patients with Glycogen storage disease type III
Perveen, Shama, Gupta, Neerja, Kumar, Manoj, Kaur, Punit, Chowdhury, Madhumita R., Kabra, Madhulika
Published in American journal of medical genetics. Part A (01.05.2020)
Published in American journal of medical genetics. Part A (01.05.2020)
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Journal Article
Corrigendum to “Spectrum of amyloglucosidase mutations in Asian Indian patients with Glycogen storage disease type III. Am J Med Genet Part A. 2020;182A:1190–1,200”
Perveen, Shama, Gupta, Neerja, Kumar, Manoj, Kaur, Punit, Chowdhury, Madhumita R., Kabra, Madhulika
Published in American journal of medical genetics. Part A (01.03.2021)
Published in American journal of medical genetics. Part A (01.03.2021)
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Journal Article
Decoding of novel missense TSC2 gene variants using in-silico methods
Sudarshan, Shruthi, Kumar, Manoj, Kaur, Punit, Kumar, Atin, G, Sethuraman, Sapra, Savita, Gulati, Sheffali, Gupta, Neerja, Kabra, Madhulika, Roy Chowdhury, Madhumita
Published in BMC medical genetics (26.10.2019)
Published in BMC medical genetics (26.10.2019)
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Journal Article
Genotype-Phenotype Correlations of Dystrophic Epidermolysis Bullosa in India: Experience from a Tertiary Care Centre
Yenamandra, Vamsi K, Vellarikkal, Shamsudheen K, Chowdhury, Madhumita R, Jayarajan, Rijith, Verma, Ankit, Scaria, Vinod, Sivasubbu, Sridhar, Ray, Subrata Basu, Dinda, Amit K, Kabra, Madhulika, Sharma, Vinod K, Sethuraman, Gomathy
Published in Acta dermato-venereologica (10.10.2018)
Published in Acta dermato-venereologica (10.10.2018)
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Journal Article
Application of Whole Exome Sequencing in Elucidating the Phenotype and Genotype Spectrum of Junctional Epidermolysis Bullosa: A Preliminary Experience of a Tertiary Care Centre in India
Yenamandra, Vamsi K, Vellarikkal, Shamsudheen K, Kumar, Manoj, Chowdhury, Madhumita R, Jayarajan, Rijith, Verma, Ankit, Scaria, Vinod, Sivasubbu, Sridhar, Ray, Subrata B, Dinda, Amit K, Kabra, Madhulika, Kaur, Punit, Sharma, Vinod K, Sethuraman, Gomathy
Published in Journal of dermatological science (01.04.2017)
Published in Journal of dermatological science (01.04.2017)
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Journal Article
Prenatal diagnosis of steroid 21-hydroxylase-deficient congenital adrenal hyperplasia: Experience from a tertiary care centre in India
Dubey, Sudhisha, Tardy, Veronique, Chowdhury, Madhumita Roy, Gupta, Neerja, Jain, Vandana, Deka, Deepika, Sharma, Pankaj, Morel, Yves, Kabra, Madhulika
Published in Indian journal of medical research (New Delhi, India : 1994) (01.02.2017)
Published in Indian journal of medical research (New Delhi, India : 1994) (01.02.2017)
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Journal Article
Identification of a novel homozygous mutation in transmembrane channel like 1 ( TMC1 ) gene, one of the second-tier hearing loss genes after GJB2 in India
Singh, Pawan Kumar, Ghosh, Manju, Sharma, Shipra, Shastri, Shivaram, Gupta, Neerja, Chowdhury, Madhumita Roy, Anand, Anuranjan, Kabra, Madhulika
Published in Indian journal of medical research (New Delhi, India : 1994) (01.04.2017)
Published in Indian journal of medical research (New Delhi, India : 1994) (01.04.2017)
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Journal Article
Weak Ligaments and Sloping Joints: A New Hypothesis for Development of Congenital Atlantoaxial Dislocation and Basilar Invagination
Chauhan, Avnish K, Chandra, P Sarat, Goyal, Nishant, Chowdhury, Madhumita R, Banerjee, Jyotirmoy, Tripathi, Manjari, Kabra, Madhulika
Published in Neurospine (01.12.2020)
Published in Neurospine (01.12.2020)
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Journal Article
Williams-Beuren Syndrome: Experience of 43 Patients and a Report of an Atypical Case from a Tertiary Care Center in India
Sharma, Pankaj, Gupta, Neerja, Chowdhury, Madhumita R., Phadke, Shubha R., Sapra, Savita, Halder, Ashutosh, Ghosh, Manju, Kabra, Madhulika
Published in Cytogenetic and genome research (01.11.2015)
Published in Cytogenetic and genome research (01.11.2015)
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Journal Article
Inherited 5p deletion syndrome due to paternal balanced translocation: Phenotypic heterogeneity due to duplication of 8q and 12p
Sharma, Pankaj, Gupta, Neerja, Chowdhury, Madhumita R., Sapra, Savita, Shukla, Rashmi, Lall, Meena, Kabra, Madhulika
Published in Journal of pediatric genetics (Birmingham, Ala.) (01.09.2013)
Published in Journal of pediatric genetics (Birmingham, Ala.) (01.09.2013)
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Journal Article
Pathogenic/likely pathogenic variants in the SHOX, GHR and IGFALS genes among Indian children with idiopathic short stature
Kumar, Anil, Jain, Vandana, Chowdhury, Madhumita Roy, Kumar, Manoj, Kaur, Punit, Kabra, Madhulika
Published in Journal of Pediatric Endocrinology & Metabolism (28.01.2020)
Published in Journal of Pediatric Endocrinology & Metabolism (28.01.2020)
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Journal Article
A report of 5 Indian families with multicentric carpotarsal osteolysis syndrome
Gupta, Neerja, Chakraborty, Soumalya, Chowdhury, Madhumita Roy, Puri, Ratna Dua, Jana, Manisha, Kumari, Indu, Bhatia, Sameer, Kabra, Madhulika
Published in European journal of medical genetics (01.09.2023)
Published in European journal of medical genetics (01.09.2023)
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Journal Article
Application of chromosomal microarrays in the evaluation of intellectual disability/global developmental delay patients – A study from a tertiary care genetic centre in India
Sharma, Pankaj, Gupta, Neerja, Chowdhury, Madhumita Roy, Sapra, Savita, Ghosh, Manju, Gulati, Sheffali, Kabra, Madhulika
Published in Gene (15.09.2016)
Published in Gene (15.09.2016)
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Journal Article
INFORMATION PROCESSOR, INFORMATION PROCESSING METHOD AND INFORMATION PROCESSING PROGRAM
OISHI YOSHIYUKI, OKUDA KO, INOUE TAKUYA, CHOWDHURY MADHUMITA, KANO SACHIKO, ROBIN SAKAI
Year of Publication 11.01.2024
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Year of Publication 11.01.2024
Patent
PROVISION DEVICE, PROVISION METHOD, AND PROVISION PROGRAM
OISHI YOSHIYUKI, OKUDA KO, MAHAATORE ADHIITHIYA, GONG XUEWEI, INOUE TAKUYA, CHOWDHURY MADHUMITA
Year of Publication 06.07.2022
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Year of Publication 06.07.2022
Patent