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Indian Journal of Pediatrics
|
March 27, 2012
Analysis of short stature cases referred for genetic evaluation
Anupriya Kaur, Shubha R Phadke
BMJ Case Reports
|
September 26, 2018
Novel mutation in the <i>CHST14</i> gene causing musculocontractural type of Ehlers-Danlos syndrome
Sapna Sandal, Anupriya Kaur, Inusha Panigrahi
Indian Journal of Hematology & Blood Transfusion : an Official Journal of Indian Society of Hematology and Blood Transfusion
|
December 2, 2014
Influence of Xmn 1(G)γ (HBG2 c.-211 C → T) Globin Gene Polymorphism on Phenotype of Thalassemia Patients of North India
Ravindra Kumar, Anupriya Kaur, Sarita Agarwal
American Journal of Medical Genetics. Part A
|
February 2, 2021
Ayme gripp syndrome in an Indian patient
Chakshu Chaudhry, Parminder Kaur, Priyanka Srivastava, et al.
American Journal of Medical Genetics. Part A
|
September 11, 2020
Wolf-Hirschhorn syndrome: A case series from India
Chakshu Chaudhry, Anit Kaur, Inusha Panigrahi, et al.
BMJ Case Reports
|
January 18, 2023
Congenital glaucoma as a presenting feature of Rubinstein-Taybi syndrome in an infant with a novel pathogenic variant in the <i>CREBBP</i> gene
Sagarika Snehi, Anupriya Kaur, Chakshu Chaudhry, et al.
BMJ Case Reports
|
July 27, 2021
Bartter syndrome and hypothyroidism masquerading cystinosis in a 3-year-old girl: rare manifestation of a rare disease
Gargi Das, Pamali Mahasweta Nanda, Anupriya Kaur, et al.
BMJ Case Reports
|
August 16, 2019
Metaphyseal dysplasia, Spahr type: a mimicker of rickets
Muthuvel Balasubramaniyan, Anupriya Kaur, Anindita Sinha, 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.
Clinical Dysmorphology
|
April 16, 2021
Rare chromosomal aberrations detected in children with multiple congenital anomalies: utility of multiple ligation dependant probe amplification for developing countries
Shirisha Pulipaka, Anit Kaur, Prateek Bhatia, et al.
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of 7
Search research articles
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Showing results (1-10 of 66) with videos related to
Sort By:
Page
of 7
Indian Journal of Pediatrics
|
March 27, 2012
Analysis of short stature cases referred for genetic evaluation
Anupriya Kaur, Shubha R Phadke
BMJ Case Reports
|
September 26, 2018
Novel mutation in the <i>CHST14</i> gene causing musculocontractural type of Ehlers-Danlos syndrome
Sapna Sandal, Anupriya Kaur, Inusha Panigrahi
Indian Journal of Hematology & Blood Transfusion : an Official Journal of Indian Society of Hematology and Blood Transfusion
|
December 2, 2014
Influence of Xmn 1(G)γ (HBG2 c.-211 C → T) Globin Gene Polymorphism on Phenotype of Thalassemia Patients of North India
Ravindra Kumar, Anupriya Kaur, Sarita Agarwal
American Journal of Medical Genetics. Part A
|
February 2, 2021
Ayme gripp syndrome in an Indian patient
Chakshu Chaudhry, Parminder Kaur, Priyanka Srivastava, et al.
American Journal of Medical Genetics. Part A
|
September 11, 2020
Wolf-Hirschhorn syndrome: A case series from India
Chakshu Chaudhry, Anit Kaur, Inusha Panigrahi, et al.
BMJ Case Reports
|
January 18, 2023
Congenital glaucoma as a presenting feature of Rubinstein-Taybi syndrome in an infant with a novel pathogenic variant in the <i>CREBBP</i> gene
Sagarika Snehi, Anupriya Kaur, Chakshu Chaudhry, et al.
BMJ Case Reports
|
July 27, 2021
Bartter syndrome and hypothyroidism masquerading cystinosis in a 3-year-old girl: rare manifestation of a rare disease
Gargi Das, Pamali Mahasweta Nanda, Anupriya Kaur, et al.
BMJ Case Reports
|
August 16, 2019
Metaphyseal dysplasia, Spahr type: a mimicker of rickets
Muthuvel Balasubramaniyan, Anupriya Kaur, Anindita Sinha, 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.
Clinical Dysmorphology
|
April 16, 2021
Rare chromosomal aberrations detected in children with multiple congenital anomalies: utility of multiple ligation dependant probe amplification for developing countries
Shirisha Pulipaka, Anit Kaur, Prateek Bhatia, et al.
Page
of 7