Hakutulokset - 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 Tekijä Smrithi Salian, Ashish Gupta, Anju Shukla, Katta M Girisha

Connect to this object online.

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

Connect to this object online.

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

Connect to this object online.

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

Connect to this object online.

Gaucher disease: single gene molecular characterization of one-hundred Indian patients reveals novel variants and the most prevalent mutation Tekijä 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

Connect to this object online.