Genotype-Phenotype Correlations of Dystrophic Epidermolysis Bullosa in India: Experience from a Tertiary Care Centre von 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

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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... von 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

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Weak Ligaments and Sloping Joints: A New Hypothesis for Development of Congenital Atlantoaxial Dislocation and Basilar Invagination von Chauhan, Avnish K., Chandra, P. Sarat, Goyal, Nishant, Chowdhury, Madhumita R., Banerjee, Jyotirmoy, Tripathi, Manjari, Kabra, Madhulika

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Spectrum of amyloglucosidase mutations in Asian Indian patients with Glycogen storage disease type III von Perveen, Shama, Gupta, Neerja, Kumar, Manoj, Kaur, Punit, Chowdhury, Madhumita R., Kabra, Madhulika

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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” von Perveen, Shama, Gupta, Neerja, Kumar, Manoj, Kaur, Punit, Chowdhury, Madhumita R., Kabra, Madhulika

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Williams-Beuren Syndrome: Experience of 43 Patients and a Report of an Atypical Case from a Tertiary Care Center in India von Sharma, Pankaj, Gupta, Neerja, Chowdhury, Madhumita R., Phadke, Shubha R., Sapra, Savita, Halder, Ashutosh, Ghosh, Manju, Kabra, Madhulika

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Inherited 5p deletion syndrome due to paternal balanced translocation: Phenotypic heterogeneity due to duplication of 8q and 12p von Sharma, Pankaj, Gupta, Neerja, Chowdhury, Madhumita R., Sapra, Savita, Shukla, Rashmi, Lall, Meena, Kabra, Madhulika

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Spectrum of amyloglucosidase mutations in Asian Indian patients with Glycogen storage disease type III (vol 182A, pg 1190, 2020) von Perveen, Shama, Gupta, Neerja, Kumar, Manoj, Kaur, Punit, Chowdhury, Madhumita R., Kabra, Madhulika

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Inherited 5p deletion syndrome due to paternal balanced translocation: Phenotypic heterogeneity due to duplication of 8q and 12p von Sharma, Pankaj, Gupta, Neerja, Chowdhury, Madhumita R, Sapra, Savita, Shukla, Rashmi, Lall, Meena, Kabra, Madhulika

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Direct UV photolysis of pharmaceutical compounds: Determination of pH-dependent quantum yield and full-scale performance von Chowdhury, Pankaj, Sarathy, Siva R., Das, Sreejon, Li, Juan, Ray, Ajay K., Ray, Madhumita B.

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Genomics of rare genetic diseases-experiences from India von Sivasubbu, Sridhar, Scaria, Vinod

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Molecular characterization of hemophilia B in North Indian families: identification of novel and recurrent molecular events in the factor IX gene von Mahajan, A, Chavali, S, Kabra, M, Chowdhury, MR, Bharadwaj, D

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Factor IX gene polymorphisms in Indian population von Chowdhury, Madhumita Roy, Kabra, Madhulika, Menon, P.S.N.

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Recent advances in chromosome breakage syndromes and their diagnosis von MATHUR, Roli, MADHUMITA ROY CHOWDHURY, SINGH, Geeta

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Fragile X screening for FRAXA and FRAXE mutations using PCR based studies: Results of a five year study von Chowdhury MadhumitaRoy, Kabra Madhulika, Sharma Deepti, Singh Deepika, Dabral Anjali, Thelma BK, Kalra Veena

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