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Journal of Pediatric Genetics
|
October 21, 2022
A Further Case of Larsen's Syndrome: Clinical and Genotypic Challenges in Diagnosis
Veronica Arora, Swasti Pal, Samarth Kulshreshtha, et al.
Indian Pediatrics
|
April 22, 2021
Challenges in Chronic Genetic Disorders: Lessons From the COVID-19 Pandemic
Swasti Pal, Sameer Bhatia, Sunita Bijarnia-Mahay, et al.
Molecular Syndromology
|
December 5, 2024
Two-Compound Heterozygous Deletions Affecting <i>TUBGCP6</i> in a Patient with Microcephaly and Ocular Abnormalities and in an Unborn Sibling with Abnormal Sulcation
Swasti Pal, Samarth Kulshrestha, Neha Garg, et al.
European Journal of Human Genetics : EJHG
|
November 29, 2023
The molecular landscape of oculocutaneous albinism in India and its therapeutic implications
Sudha Kohli, Renu Saxena, Ratna Dua Puri, et al.
European Journal of Human Genetics : EJHG
|
April 11, 2024
Role of next generation sequencing in diagnosis and management of critically ill children with suspected monogenic disorder
Sameer Bhatia, Swasti Pal, Samarth Kulshrestha, et al.
Clinical Dysmorphology
|
August 14, 2024
Report of a novel recurrent homozygous variant c.620A>T in three unrelated families with thiamine metabolism dysfunction syndrome 5 and review of literature
Selinda Mascarenhas, Mayuri Yeole, Lakshmi Priya Rao, et al.
Indian Journal of Pediatrics
|
July 5, 2026
Impact of Enzyme Replacement Therapy on Patients with Late Onset Pompe Disease - Real World Data from a Developing Country
Swasti Pal, Sunita Bijarnia-Mahay, Sheela Nampoothiri, et al.
Indian Journal of Pediatrics
|
July 10, 2026
Organic Acidemias in India: Clinical and Molecular Spectrum
Sunita Bijarnia-Mahay, Deepti Gupta, Ratna D Puri, et al.
Arxiv
|
February 24, 2025
<i>KMT2B</i>-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation
Laura Cif, Diane Demailly, Jean-Pierre Lin, et al.
Brain : a Journal of Neurology
|
November 5, 2020
KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation
Laura Cif, Diane Demailly, Jean-Pierre Lin, et al.
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Search research articles
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Showing results (1-10 of 10) with videos related to
Sort By:
Page
of 1
Journal of Pediatric Genetics
|
October 21, 2022
A Further Case of Larsen's Syndrome: Clinical and Genotypic Challenges in Diagnosis
Veronica Arora, Swasti Pal, Samarth Kulshreshtha, et al.
Indian Pediatrics
|
April 22, 2021
Challenges in Chronic Genetic Disorders: Lessons From the COVID-19 Pandemic
Swasti Pal, Sameer Bhatia, Sunita Bijarnia-Mahay, et al.
Molecular Syndromology
|
December 5, 2024
Two-Compound Heterozygous Deletions Affecting <i>TUBGCP6</i> in a Patient with Microcephaly and Ocular Abnormalities and in an Unborn Sibling with Abnormal Sulcation
Swasti Pal, Samarth Kulshrestha, Neha Garg, et al.
European Journal of Human Genetics : EJHG
|
November 29, 2023
The molecular landscape of oculocutaneous albinism in India and its therapeutic implications
Sudha Kohli, Renu Saxena, Ratna Dua Puri, et al.
European Journal of Human Genetics : EJHG
|
April 11, 2024
Role of next generation sequencing in diagnosis and management of critically ill children with suspected monogenic disorder
Sameer Bhatia, Swasti Pal, Samarth Kulshrestha, et al.
Clinical Dysmorphology
|
August 14, 2024
Report of a novel recurrent homozygous variant c.620A>T in three unrelated families with thiamine metabolism dysfunction syndrome 5 and review of literature
Selinda Mascarenhas, Mayuri Yeole, Lakshmi Priya Rao, et al.
Indian Journal of Pediatrics
|
July 5, 2026
Impact of Enzyme Replacement Therapy on Patients with Late Onset Pompe Disease - Real World Data from a Developing Country
Swasti Pal, Sunita Bijarnia-Mahay, Sheela Nampoothiri, et al.
Indian Journal of Pediatrics
|
July 10, 2026
Organic Acidemias in India: Clinical and Molecular Spectrum
Sunita Bijarnia-Mahay, Deepti Gupta, Ratna D Puri, et al.
Arxiv
|
February 24, 2025
<i>KMT2B</i>-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation
Laura Cif, Diane Demailly, Jean-Pierre Lin, et al.
Brain : a Journal of Neurology
|
November 5, 2020
KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation
Laura Cif, Diane Demailly, Jean-Pierre Lin, et al.
Page
of 1