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Journal of Pediatric Endocrinology & Metabolism : JPEM
|
April 19, 2025
Clinical and genetic insights into congenital lipoid adrenal hyperplasia: a case series from a tertiary care center in North India
Arun George, Anvitha Rallapalli, Pamali Mahasweta Nanda, et al.
Molecular Syndromology
|
July 11, 2026
Complimentary Episignature Testing for Variant Reclassification: Case Reports with Variant Classification Guideline Consideration
Pratibha Bawa, Jessica Rzasa, Jennifer Kerkhof, et al.
Pediatric Endocrinology, Diabetes, and Metabolism
|
May 12, 2025
Clinical and molecular spectrum of genetic hypertriglyceridaemia in North Indian children: a case series
Sayan Banerjee, Arun George, Pamali Mahaswata Nanda, et al.
Journal of Clinical Research in Pediatric Endocrinology
|
September 26, 2023
<i>SHOX</i> Variations in Idiopathic Short Stature in North India and a Review of Cases from Asian Countries
Priyanka Srivastava, Ankita Tyagi, Chitra Bamba, et al.
Journal of Clinical Research in Pediatric Endocrinology
|
March 25, 2024
Estrogen Receptor 1 Gene Polymorphism and its Association with Idiopathic Short Stature in a North Indian Population
Ravi Shankar Patel, Roshan Daniel, Chitra Bhardwaj, et al.
JIMD Reports
|
March 6, 2024
Lysosomal storage disorders identified in adult population from India: Experience of a tertiary genetic centre and review of literature
Jayesh Sheth, Aadhira Nair, Riddhi Bhavsar, et al.
Frontiers in Genetics
|
November 26, 2025
Germline activating sequence variations in RASopathy spectrum genes: genotype-phenotype correlation in a North Indian cohort
Shifali Gupta, Priyanka Srivastava, Roshan Daniel, et al.
Prenatal Diagnosis
|
October 12, 2012
Maternal serum second trimester screening for chromosomal disorders and neural tube defects in a government hospital of North India
Gurjit Kaur, Jyoti Srivastav, Avneet Kaur, et al.
Fetal and Pediatric Pathology
|
September 11, 2025
Elective Termination of Pregnancies Due to Fetal Congenital Anomalies: Utility of Various Investigating Modalities for Etiological Diagnosis of Congenital Anomalies
Roshan Daniel, Inusha Panigrahi, Priyanka Srivastava, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
June 6, 2022
Identification of novel pathogenic variants in the GCDH gene and assessment of neurodevelopmental outcomes in 24 children with glutaric aciduria type 1
Pradip Paria, Arushi Gahlot Saini, Savita Attri, et al.
Page
of 16
Search research articles
Search
Showing results (141-150 of 159) with videos related to
Sort By:
Page
of 16
Journal of Pediatric Endocrinology & Metabolism : JPEM
|
April 19, 2025
Clinical and genetic insights into congenital lipoid adrenal hyperplasia: a case series from a tertiary care center in North India
Arun George, Anvitha Rallapalli, Pamali Mahasweta Nanda, et al.
Molecular Syndromology
|
July 11, 2026
Complimentary Episignature Testing for Variant Reclassification: Case Reports with Variant Classification Guideline Consideration
Pratibha Bawa, Jessica Rzasa, Jennifer Kerkhof, et al.
Pediatric Endocrinology, Diabetes, and Metabolism
|
May 12, 2025
Clinical and molecular spectrum of genetic hypertriglyceridaemia in North Indian children: a case series
Sayan Banerjee, Arun George, Pamali Mahaswata Nanda, et al.
Journal of Clinical Research in Pediatric Endocrinology
|
September 26, 2023
<i>SHOX</i> Variations in Idiopathic Short Stature in North India and a Review of Cases from Asian Countries
Priyanka Srivastava, Ankita Tyagi, Chitra Bamba, et al.
Journal of Clinical Research in Pediatric Endocrinology
|
March 25, 2024
Estrogen Receptor 1 Gene Polymorphism and its Association with Idiopathic Short Stature in a North Indian Population
Ravi Shankar Patel, Roshan Daniel, Chitra Bhardwaj, et al.
JIMD Reports
|
March 6, 2024
Lysosomal storage disorders identified in adult population from India: Experience of a tertiary genetic centre and review of literature
Jayesh Sheth, Aadhira Nair, Riddhi Bhavsar, et al.
Frontiers in Genetics
|
November 26, 2025
Germline activating sequence variations in RASopathy spectrum genes: genotype-phenotype correlation in a North Indian cohort
Shifali Gupta, Priyanka Srivastava, Roshan Daniel, et al.
Prenatal Diagnosis
|
October 12, 2012
Maternal serum second trimester screening for chromosomal disorders and neural tube defects in a government hospital of North India
Gurjit Kaur, Jyoti Srivastav, Avneet Kaur, et al.
Fetal and Pediatric Pathology
|
September 11, 2025
Elective Termination of Pregnancies Due to Fetal Congenital Anomalies: Utility of Various Investigating Modalities for Etiological Diagnosis of Congenital Anomalies
Roshan Daniel, Inusha Panigrahi, Priyanka Srivastava, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
June 6, 2022
Identification of novel pathogenic variants in the GCDH gene and assessment of neurodevelopmental outcomes in 24 children with glutaric aciduria type 1
Pradip Paria, Arushi Gahlot Saini, Savita Attri, et al.
Page
of 16