Search research articles
Contact Us
Filters
Showing results (21-30 of 170) with videos related to
Page
of 17
Sort By:
Clinical Genetics
|
December 10, 2021
Utility of clinical exome sequencing in progressive myoclonus epilepsy syndromes: An exploratory analysis
Manna Jose, Prashant Poulose, Soumya Sundaram, et al.
Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society
|
July 24, 2012
Sirenomelia: case reports and current concepts of pathogenesis
Minnie Pillay, Dhanya Yesodharan, Dhanya Lakshmi Narayanan, et al.
Indian Journal of Pediatrics
|
February 1, 2018
Goltz-Gorlin Syndrome: Revisiting the Clinical Spectrum
Dhanya Yesodharan, Uta Meyer Zum Büschenfelde, Kerstin Kutsche, et al.
International Journal of Dermatology
|
October 2, 2010
An Indian family with Sjögren-Larsson syndrome caused by a novel ALDH3A2 mutation
Kaori Sakai, Masashi Akiyama, Teruki Yanagi, et al.
American Journal of Medical Genetics. Part A
|
November 12, 2020
Lethal Cenani Lenz syndrome in two consecutive pregnancies: Further extension of phenotype from Maldives
Dhanya Yesodharan, Vivek Krishnan, Indu R Nair, et al.
American Journal of Medical Genetics. Part A
|
September 13, 2011
Macrostomia, thin upper vermilion border, long philtrum, broad halluces, and intellectual disability in two sibs
Sheela Nampoothiri, Shwetha Kuthiroly, Christine Fauth, et al.
Indian Journal of Pediatrics
|
April 9, 2013
Acampomelic form of campomelic dysplasia with SOX9 missense mutation
Hariharan Gopakumar, Andrea Superti-Furga, Sheila Unger, et al.
Journal of Pediatric Genetics
|
November 17, 2017
Plexiform Neurofibroma of Clitoris
Dhanya Yesodharan, Bindu Sudarsanan, Annie Jojo, et al.
American Journal of Medical Genetics. Part A
|
January 6, 2022
Monosomy 1p36: Report of a cohort of 13 Asian Indian patients
Neerja Gupta, Ravneet Kaur, Shubha Phadke, 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.
Page
of 17
Search research articles
Search
Showing results (21-30 of 170) with videos related to
Sort By:
Page
of 17
Clinical Genetics
|
December 10, 2021
Utility of clinical exome sequencing in progressive myoclonus epilepsy syndromes: An exploratory analysis
Manna Jose, Prashant Poulose, Soumya Sundaram, et al.
Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society
|
July 24, 2012
Sirenomelia: case reports and current concepts of pathogenesis
Minnie Pillay, Dhanya Yesodharan, Dhanya Lakshmi Narayanan, et al.
Indian Journal of Pediatrics
|
February 1, 2018
Goltz-Gorlin Syndrome: Revisiting the Clinical Spectrum
Dhanya Yesodharan, Uta Meyer Zum Büschenfelde, Kerstin Kutsche, et al.
International Journal of Dermatology
|
October 2, 2010
An Indian family with Sjögren-Larsson syndrome caused by a novel ALDH3A2 mutation
Kaori Sakai, Masashi Akiyama, Teruki Yanagi, et al.
American Journal of Medical Genetics. Part A
|
November 12, 2020
Lethal Cenani Lenz syndrome in two consecutive pregnancies: Further extension of phenotype from Maldives
Dhanya Yesodharan, Vivek Krishnan, Indu R Nair, et al.
American Journal of Medical Genetics. Part A
|
September 13, 2011
Macrostomia, thin upper vermilion border, long philtrum, broad halluces, and intellectual disability in two sibs
Sheela Nampoothiri, Shwetha Kuthiroly, Christine Fauth, et al.
Indian Journal of Pediatrics
|
April 9, 2013
Acampomelic form of campomelic dysplasia with SOX9 missense mutation
Hariharan Gopakumar, Andrea Superti-Furga, Sheila Unger, et al.
Journal of Pediatric Genetics
|
November 17, 2017
Plexiform Neurofibroma of Clitoris
Dhanya Yesodharan, Bindu Sudarsanan, Annie Jojo, et al.
American Journal of Medical Genetics. Part A
|
January 6, 2022
Monosomy 1p36: Report of a cohort of 13 Asian Indian patients
Neerja Gupta, Ravneet Kaur, Shubha Phadke, 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.
Page
of 17