Autosomal dominant mutation in COL7A1 gene causing epidermolysis bullosa dystrophica

por Sheth, Jayesh, Mistri, Mehul, Patel, Harsh, Ankleshwaria, Chitra, Parikh, Aradhana
Publicado 2014

Frequency analysis of Spinocerebellar ataxia types 1, 2, 3 & 6 in patients with ataxia from Gujarat

por Patel, Harsh, Mistri, Mehul, Ankleshwaria, Chitra, Sheth, Frenny, Sheth, Jayesh
Publicado 2014

Identification of Novel Mutations in FAH Gene and Prenatal Diagnosis of Tyrosinemia in Indian Family

por Sheth, Jayesh J., Ankleshwaria, Chitra M., Pawar, Rajeshwari, Sheth, Frenny J.
Publicado 2012

Prenatal diagnosis of autosomal recessive osteopetrosis: a case report

por Mistri, Mehul, Patel, Harsh, Tanna, Tanmay, Ankleshwaria, Chitra, Sheth, Frenny, Sheth, Jayesh
Publicado 2014

Identification of novel mutations in glucocerebrosidase (GBA) gene in Indian patients with gaucher disease (GD)

por Ankleshwaria, Chitra, Sheth, Jayesh, Mistri, Mehul, Bavdekar, Ashish, Nampoothiri, Sheela, Gupta, Sarita, Sheth, Frenny
Publicado 2014

Biochemical and molecular characterization of adult patients with type I Gaucher disease and carrier frequency analysis of Leu444Pro - a common Gaucher disease mutation in India

por Sheth, Jayesh, Pancholi, Dhairya, Mistri, Mehul, Nath, Payal, Ankleshwaria, Chitra, Bhavsar, Riddhi, Puri, Ratna, Phadke, Shubha, Sheth, Frenny
Publicado 2018