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Indian Pediatrics
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February 16, 2020
Management of Infants with Congenital Adrenal Hyperplasia
Aashima Dabas, Pallavi Vats, Rajni Sharma, et al.
American Journal of Medical Genetics. Part A
|
March 27, 2014
Mutation spectrum of COL1A1 and COL1A2 genes in Indian patients with osteogenesis imperfecta
Joshi Stephen, Anju Shukla, Ashwin Dalal, et al.
Indian Pediatrics
|
March 6, 2018
Diagnosis and Management of Gaucher Disease in India - Consensus Guidelines of the Gaucher Disease Task Force of the Society for Indian Academy of Medical Genetics and the Indian Academy of Pediatrics
Ratna Dua Puri, Seema Kapoor, Priya S Kishnani, et al.
Indian Journal of Dermatology, Venereology and Leprology
|
January 9, 2015
Clinical profile and mutation analysis of xeroderma pigmentosum in Indian patients
Parag M Tamhankar, Shruti V Iyer, Shyla Ravindran, et al.
Metabolic Brain Disease
|
August 5, 2017
Asparagine Synthetase deficiency-report of a novel mutation and review of literature
Neerja Gupta, Vishal Vishnu Tewari, Manoj Kumar, et al.
Metabolic Brain Disease
|
September 7, 2017
Erratum to: Asparagine synthetase deficiency-report of a novel mutation and review of literature
Neerja Gupta, Vishal Vishnu Tewari, Manoj Kumar, et al.
BMC Neurology
|
December 14, 2018
Batten disease: biochemical and molecular characterization revealing novel PPT1 and TPP1 gene mutations in Indian patients
Jayesh Sheth, Mehul Mistri, Riddhi Bhavsar, et al.
Journal of Child Neurology
|
July 4, 2012
Effectiveness and safety of donepezil in boys with fragile x syndrome: a double-blind, randomized, controlled pilot study
Jitendra Kumar Sahu, Sheffali Gulati, Savita Sapra, et al.
European Journal of Medical Genetics
|
May 4, 2021
Phenotypic and genotypic spectrum of CTSK variants in a cohort of twenty-five Indian patients with pycnodysostosis
Haseena Sait, Priyanka Srivastava, Neerja Gupta, et al.
American Journal of Medical Genetics. Part A
|
January 13, 2023
The spectrum of neurological manifestations and genotype-phenotype correlation in Indian children with Gaucher disease
Mahesh Venkatachari, Soumalya Chakraborty, Alec Reginald Errol Correa, et al.
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of 24
Search research articles
Search
Showing results (171-180 of 238) with videos related to
Sort By:
Page
of 24
Indian Pediatrics
|
February 16, 2020
Management of Infants with Congenital Adrenal Hyperplasia
Aashima Dabas, Pallavi Vats, Rajni Sharma, et al.
American Journal of Medical Genetics. Part A
|
March 27, 2014
Mutation spectrum of COL1A1 and COL1A2 genes in Indian patients with osteogenesis imperfecta
Joshi Stephen, Anju Shukla, Ashwin Dalal, et al.
Indian Pediatrics
|
March 6, 2018
Diagnosis and Management of Gaucher Disease in India - Consensus Guidelines of the Gaucher Disease Task Force of the Society for Indian Academy of Medical Genetics and the Indian Academy of Pediatrics
Ratna Dua Puri, Seema Kapoor, Priya S Kishnani, et al.
Indian Journal of Dermatology, Venereology and Leprology
|
January 9, 2015
Clinical profile and mutation analysis of xeroderma pigmentosum in Indian patients
Parag M Tamhankar, Shruti V Iyer, Shyla Ravindran, et al.
Metabolic Brain Disease
|
August 5, 2017
Asparagine Synthetase deficiency-report of a novel mutation and review of literature
Neerja Gupta, Vishal Vishnu Tewari, Manoj Kumar, et al.
Metabolic Brain Disease
|
September 7, 2017
Erratum to: Asparagine synthetase deficiency-report of a novel mutation and review of literature
Neerja Gupta, Vishal Vishnu Tewari, Manoj Kumar, et al.
BMC Neurology
|
December 14, 2018
Batten disease: biochemical and molecular characterization revealing novel PPT1 and TPP1 gene mutations in Indian patients
Jayesh Sheth, Mehul Mistri, Riddhi Bhavsar, et al.
Journal of Child Neurology
|
July 4, 2012
Effectiveness and safety of donepezil in boys with fragile x syndrome: a double-blind, randomized, controlled pilot study
Jitendra Kumar Sahu, Sheffali Gulati, Savita Sapra, et al.
European Journal of Medical Genetics
|
May 4, 2021
Phenotypic and genotypic spectrum of CTSK variants in a cohort of twenty-five Indian patients with pycnodysostosis
Haseena Sait, Priyanka Srivastava, Neerja Gupta, et al.
American Journal of Medical Genetics. Part A
|
January 13, 2023
The spectrum of neurological manifestations and genotype-phenotype correlation in Indian children with Gaucher disease
Mahesh Venkatachari, Soumalya Chakraborty, Alec Reginald Errol Correa, et al.
Page
of 24