Rezultati - Katta M. Girisha

Novel ALOX12B mutation identified in parents following single nucleotide polymorphism microarray testing of banked DNA from a fatal case of congenital ichthyosis od Smrithi Salian, Ashish Gupta, Anju Shukla, Katta M Girisha

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Focal dermal hypoplasia with a de novo mutation p.e300FNx01 of porcn gene in a male infant od Swathi Sunil Rao, Rathika D Shenoy, Smrithi Salian, Katta M Girisha

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Myelomonocytic leukaemia (JMML) in a child with intellectual disability and chromosome 4q deletion od Harsha Prasada Lashkari, Naga Venkata Sirisha Andey, Nanda Kumar, Katta M. Girisha

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FLNA mutations in surviving males presenting with connective tissue findings: two new case reports and review of the literature od Elyssa Cannaerts, Anju Shukla, Mensuda Hasanhodzic, Maaike Alaerts, Dorien Schepers, Lut Van Laer, Katta M. Girisha, Iva Hojsak, Bart Loeys, Aline Verstraeten

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Gaucher disease: single gene molecular characterization of one-hundred Indian patients reveals novel variants and the most prevalent mutation od Jayesh Sheth, Riddhi Bhavsar, Mehul Mistri, Dhairya Pancholi, Ashish Bavdekar, Ashwin Dalal, Prajnya Ranganath, Katta M Girisha, Anju Shukla, Shubha Phadke, Ratna Puri, Inusha Panigrahi, Anupriya Kaur, Mamta Muranjan, Manisha Goyal, Radha Ramadevi, Raju Shah, Sheela Nampoothiri, Sumita Danda, Chaitanya Datar, Seema Kapoor, Seema Bhatwadekar, Frenny Sheth

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