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American Journal of Medical Genetics. Part A
|
May 16, 2012
Confirmation of the Zechi-Ceide syndrome
Siddaramappa J Patil, Venkatraman Bhat, Ashwin Dalal, et al.
American Journal of Medical Genetics. Part A
|
May 26, 2012
Facial phenotype at different ages and cardiovascular malformations in children with Williams-Beuren syndrome: a study from India
Siddaramappa J Patil, B G Madhusudhan, Sejal Shah, et al.
American Journal of Medical Genetics. Part A
|
January 26, 2021
Clinical and molecular characterization of four patients with Robinow syndrome from different families
Archana Rai, Siddaramappa J Patil, Priyanka Srivastava, et al.
BJR Case Reports
|
October 27, 2018
Severe caudal regression syndrome with overlapping features of VACTERL complex: antenatal detection and follow up
K Kanagasabai, Venkatraman Bhat, G K Pramod, et al.
Clinical Dysmorphology
|
August 21, 2021
Report of an Asian-Indian patient with Okur-Chung Syndrome and comparison of the clinical phenotype in different ethnic groups
Priya Ranganath, Prajnya Ranganath, V S Vineeth, et al.
Clinical Dysmorphology
|
February 12, 2016
Complex chromosomal rearrangement involving five chromosomes: deciphering genomic imbalances in an apparently balanced chromosomal translocation
Kausik Mandal, Meenal Agarwal, Vijay R Boggula, et al.
Journal of Human Genetics
|
May 9, 2018
Novel splice-site variant of UCHL1 in an Indian family with autosomal recessive spastic paraplegia-79
Aneek Das Bhowmik, Siddaramappa J Patil, Dipti Vijayrao Deshpande, et al.
Annals of Human Genetics
|
November 22, 2024
Intermittent episodes of acute severe encephalomyopathy and early death in two siblings caused by biallelic likely pathogenic variants in FASTKD2: Expanding phenotype and literature review
Namanpreet Kaur, Puneeth H Somashekar, Sekar Deepha, et al.
Journal of Pediatric Genetics
|
January 23, 2023
Knobloch Syndrome in Siblings with Posterior Fossa Malformations Along with Cerebellar Midline Cleft Abnormality Caused by Biallelic <i>COL18A1</i> Mutation: Case-Based Review
Siddaramappa J Patil, Shruti Pande, Jyoti Matalia, et al.
Neurology India
|
September 13, 2019
A Case Report of Recurrent Hypokalemic Paralysis-missing the "Period"
Siddhesh Rajadhyax, Bhumir Chauhan, Vikram Huded, et al.
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Search research articles
Search
Showing results (1-10 of 30) with videos related to
Sort By:
Page
of 3
American Journal of Medical Genetics. Part A
|
May 16, 2012
Confirmation of the Zechi-Ceide syndrome
Siddaramappa J Patil, Venkatraman Bhat, Ashwin Dalal, et al.
American Journal of Medical Genetics. Part A
|
May 26, 2012
Facial phenotype at different ages and cardiovascular malformations in children with Williams-Beuren syndrome: a study from India
Siddaramappa J Patil, B G Madhusudhan, Sejal Shah, et al.
American Journal of Medical Genetics. Part A
|
January 26, 2021
Clinical and molecular characterization of four patients with Robinow syndrome from different families
Archana Rai, Siddaramappa J Patil, Priyanka Srivastava, et al.
BJR Case Reports
|
October 27, 2018
Severe caudal regression syndrome with overlapping features of VACTERL complex: antenatal detection and follow up
K Kanagasabai, Venkatraman Bhat, G K Pramod, et al.
Clinical Dysmorphology
|
August 21, 2021
Report of an Asian-Indian patient with Okur-Chung Syndrome and comparison of the clinical phenotype in different ethnic groups
Priya Ranganath, Prajnya Ranganath, V S Vineeth, et al.
Clinical Dysmorphology
|
February 12, 2016
Complex chromosomal rearrangement involving five chromosomes: deciphering genomic imbalances in an apparently balanced chromosomal translocation
Kausik Mandal, Meenal Agarwal, Vijay R Boggula, et al.
Journal of Human Genetics
|
May 9, 2018
Novel splice-site variant of UCHL1 in an Indian family with autosomal recessive spastic paraplegia-79
Aneek Das Bhowmik, Siddaramappa J Patil, Dipti Vijayrao Deshpande, et al.
Annals of Human Genetics
|
November 22, 2024
Intermittent episodes of acute severe encephalomyopathy and early death in two siblings caused by biallelic likely pathogenic variants in FASTKD2: Expanding phenotype and literature review
Namanpreet Kaur, Puneeth H Somashekar, Sekar Deepha, et al.
Journal of Pediatric Genetics
|
January 23, 2023
Knobloch Syndrome in Siblings with Posterior Fossa Malformations Along with Cerebellar Midline Cleft Abnormality Caused by Biallelic <i>COL18A1</i> Mutation: Case-Based Review
Siddaramappa J Patil, Shruti Pande, Jyoti Matalia, et al.
Neurology India
|
September 13, 2019
A Case Report of Recurrent Hypokalemic Paralysis-missing the "Period"
Siddhesh Rajadhyax, Bhumir Chauhan, Vikram Huded, et al.
Page
of 3