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Journal of Pediatric Genetics
|
April 3, 2024
Pattern Recognition of Common Multiple Congenital Malformation Syndromes with Underlying Chromatinopathy
Anupriya Kaur, Chakshu Chaudhry, Parminder Kaur, et al.
Journal of Pediatric Genetics
|
November 6, 2024
<i>TWIST1</i> Gene Variants Cause Craniosynostosis with Limb Abnormalities in Asian Patients
Shalini Dhiman, Inusha Panigrahi, Maryada Sharma, et al.
Journal of Pediatric Genetics
|
May 9, 2024
Case Studies of Two Classical Imprinting Growth Disorders: Silver-Russell and Beckwith-Wiedemann Syndromes
Parminder Kaur, Chakshu Chaudhry, Anupriya Kaur, et al.
American Journal of Medical Genetics. Part A
|
February 22, 2021
X-linked frontometaphyseal dysplasia with severe scoliosis and spinal cord compromise in an Indian boy
Prabakaran Gangadaran, Chakshu Chaudhry, Inusha Panigrahi, et al.
Neurology India
|
March 10, 2022
How Experts Make a Call: Copy Number Variation Analysis in Unusual/Rare Case Scenarios
Priyanka Srivastava, Chakshu Chaudhry, Anupriya Kaur, et al.
Laboratory Medicine
|
January 29, 2021
Achondroplasia-First Report from India of a Rare FGFR3 Gene Variant
Chakshu Chaudhry, Prabakaran G, Priyanka Srivastava, et al.
European Journal of Human Genetics : EJHG
|
May 3, 2024
Biallelic loss of function variants in FUZ result in an orofaciodigital syndrome
Swati Singh, Sheela Nampoothiri, Dhanya Lakshmi Narayanan, et al.
Frontiers in Genetics
|
June 1, 2023
Identification of genetic alterations in couples and their products of conceptions from recurrent pregnancy loss in North Indian population
Priyanka Srivastava, Chitra Bamba, Seema Chopra, et al.
Journal of Pediatric Genetics
|
October 21, 2022
Short Stature Syndromes: Case Series from India
Inusha Panigrahi, Parminder Kaur, Chakshu Chaudhry, et al.
Journal of Pediatric Genetics
|
May 9, 2024
Severity Scoring Cutoff for MLPA and Its Diagnostic Yield in 332 North Indian Children with Developmental Delay
Priyanka Srivastava, Parminder Kaur, Roshan Daniel, et al.
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of 3
Search research articles
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Showing results (11-20 of 22) with videos related to
Sort By:
Page
of 3
Journal of Pediatric Genetics
|
April 3, 2024
Pattern Recognition of Common Multiple Congenital Malformation Syndromes with Underlying Chromatinopathy
Anupriya Kaur, Chakshu Chaudhry, Parminder Kaur, et al.
Journal of Pediatric Genetics
|
November 6, 2024
<i>TWIST1</i> Gene Variants Cause Craniosynostosis with Limb Abnormalities in Asian Patients
Shalini Dhiman, Inusha Panigrahi, Maryada Sharma, et al.
Journal of Pediatric Genetics
|
May 9, 2024
Case Studies of Two Classical Imprinting Growth Disorders: Silver-Russell and Beckwith-Wiedemann Syndromes
Parminder Kaur, Chakshu Chaudhry, Anupriya Kaur, et al.
American Journal of Medical Genetics. Part A
|
February 22, 2021
X-linked frontometaphyseal dysplasia with severe scoliosis and spinal cord compromise in an Indian boy
Prabakaran Gangadaran, Chakshu Chaudhry, Inusha Panigrahi, et al.
Neurology India
|
March 10, 2022
How Experts Make a Call: Copy Number Variation Analysis in Unusual/Rare Case Scenarios
Priyanka Srivastava, Chakshu Chaudhry, Anupriya Kaur, et al.
Laboratory Medicine
|
January 29, 2021
Achondroplasia-First Report from India of a Rare FGFR3 Gene Variant
Chakshu Chaudhry, Prabakaran G, Priyanka Srivastava, et al.
European Journal of Human Genetics : EJHG
|
May 3, 2024
Biallelic loss of function variants in FUZ result in an orofaciodigital syndrome
Swati Singh, Sheela Nampoothiri, Dhanya Lakshmi Narayanan, et al.
Frontiers in Genetics
|
June 1, 2023
Identification of genetic alterations in couples and their products of conceptions from recurrent pregnancy loss in North Indian population
Priyanka Srivastava, Chitra Bamba, Seema Chopra, et al.
Journal of Pediatric Genetics
|
October 21, 2022
Short Stature Syndromes: Case Series from India
Inusha Panigrahi, Parminder Kaur, Chakshu Chaudhry, et al.
Journal of Pediatric Genetics
|
May 9, 2024
Severity Scoring Cutoff for MLPA and Its Diagnostic Yield in 332 North Indian Children with Developmental Delay
Priyanka Srivastava, Parminder Kaur, Roshan Daniel, et al.
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of 3