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The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques
|
September 16, 2021
Spectrum of Movement Disorders of Late-Onset Niemann-Pick Disease Type C
Jasmine Parihar, Deepa Dash, Bhawana Aggarwal, et al.
Birth Defects Research
|
December 13, 2023
Minimally invasive autopsy in the evaluation of fetal malformations and stillbirths: A feasibility study
Neerja Gupta, Nitika Langeh, Aparna Sharma, et al.
JIMD Reports
|
January 18, 2015
Molecular Diagnosis of Hereditary Fructose Intolerance: Founder Mutation in a Community from India
Sunita Bijarnia-Mahay, Sireesha Movva, Neerja Gupta, et al.
Bone
|
May 21, 2013
Severe neuronopathic autosomal recessive osteopetrosis due to homozygous deletions affecting OSTM1
Claus-Eric Ott, Björn Fischer, Phillipe Schröter, et al.
Clinical Genetics
|
July 11, 2023
Mutation profile of Bardet-Biedl syndrome patients from India: Implicative role of multiallelic rare variants and oligogenic inheritance pattern
Harshavardhini Gnanasekaran, Sathya Priya Chandrasekhar, Suganya Kandeeban, et al.
Neurology. Genetics
|
May 2, 2019
Novel PNKP mutations causing defective DNA strand break repair and PARP1 hyperactivity in MCSZ
Ilona Kalasova, Hana Hanzlikova, Neerja Gupta, et al.
Pediatric Neurology
|
May 11, 2011
Molecular genetic studies in Indian patients with megalencephalic leukoencephalopathy
Pallavi Shukla, Neerja Gupta, Manju Ghosh, et al.
Indian Journal of Pediatrics
|
October 19, 2024
Isolated Lateralized Overgrowth - Phenotypic Spectrum and Molecular Alterations
Sakshi Yadav, R C Madhumita, Neerja Gupta, et al.
Pediatric Neurology
|
March 30, 2017
Cardiovascular Autonomic Dysfunction in Children and Adolescents With Rett Syndrome
Ajay Kumar, Ashok Jaryal, Sheffali Gulati, et al.
Journal of Human Genetics
|
August 8, 2019
Identification of novel variants in a large cohort of children with Tay-Sachs disease: An initiative of a multicentric task force on lysosomal storage disorders by Government of India
Mehul Mistri, Sanjeev Mehta, Dhaval Solanki, et al.
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Search research articles
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Showing results (161-170 of 238) with videos related to
Sort By:
Page
of 24
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques
|
September 16, 2021
Spectrum of Movement Disorders of Late-Onset Niemann-Pick Disease Type C
Jasmine Parihar, Deepa Dash, Bhawana Aggarwal, et al.
Birth Defects Research
|
December 13, 2023
Minimally invasive autopsy in the evaluation of fetal malformations and stillbirths: A feasibility study
Neerja Gupta, Nitika Langeh, Aparna Sharma, et al.
JIMD Reports
|
January 18, 2015
Molecular Diagnosis of Hereditary Fructose Intolerance: Founder Mutation in a Community from India
Sunita Bijarnia-Mahay, Sireesha Movva, Neerja Gupta, et al.
Bone
|
May 21, 2013
Severe neuronopathic autosomal recessive osteopetrosis due to homozygous deletions affecting OSTM1
Claus-Eric Ott, Björn Fischer, Phillipe Schröter, et al.
Clinical Genetics
|
July 11, 2023
Mutation profile of Bardet-Biedl syndrome patients from India: Implicative role of multiallelic rare variants and oligogenic inheritance pattern
Harshavardhini Gnanasekaran, Sathya Priya Chandrasekhar, Suganya Kandeeban, et al.
Neurology. Genetics
|
May 2, 2019
Novel PNKP mutations causing defective DNA strand break repair and PARP1 hyperactivity in MCSZ
Ilona Kalasova, Hana Hanzlikova, Neerja Gupta, et al.
Pediatric Neurology
|
May 11, 2011
Molecular genetic studies in Indian patients with megalencephalic leukoencephalopathy
Pallavi Shukla, Neerja Gupta, Manju Ghosh, et al.
Indian Journal of Pediatrics
|
October 19, 2024
Isolated Lateralized Overgrowth - Phenotypic Spectrum and Molecular Alterations
Sakshi Yadav, R C Madhumita, Neerja Gupta, et al.
Pediatric Neurology
|
March 30, 2017
Cardiovascular Autonomic Dysfunction in Children and Adolescents With Rett Syndrome
Ajay Kumar, Ashok Jaryal, Sheffali Gulati, et al.
Journal of Human Genetics
|
August 8, 2019
Identification of novel variants in a large cohort of children with Tay-Sachs disease: An initiative of a multicentric task force on lysosomal storage disorders by Government of India
Mehul Mistri, Sanjeev Mehta, Dhaval Solanki, et al.
Page
of 24