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R Phadke

Showing results (81-90 of 311) with videos related to

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Clinical Dysmorphology|April 5, 2008
Congenital swan neck deformity of fingers with syndactylyKausik Mandal, Shubha R Phadke, Jayantee Kalita
American Journal of Medical Genetics. Part A|February 15, 2021
Twins with PEX7 related intellectual disability and cataract: Highlighting phenotypes of peroxisome biogenesis disorder 9BSuzena Masih, Amita Moirangthem, Shubha R Phadke
Indian Pediatrics|November 10, 2017
Double Segment Chromosomal Imbalance due to Inherited Chromosomal Translocation: Detection by Cytogenetic MicroarrayMoni Tuteja, Divya Agarwal, Shubha R Phadke
Indian Journal of Nephrology|November 1, 2016
A novel heterozygous missense mutation in uromodulin gene in an Indian family with familial juvenile hyperuricemic nephropathyD Saxena, P Srivastava, S R Phadke
European Journal of Medical Genetics|May 13, 2018
Sequence variations in TENM3 gene causing eye anomalies with intellectual disability: Expanding the phenotypic spectrumBharti Singh, Priyanka Srivastava, Shubha R Phadke
American Journal of Medical Genetics. Part A|October 4, 2011
Angelman syndrome and prenatally diagnosed Prader-Willi syndrome in first cousinsPrajnya Ranganath, Meenal Agarwal, Shubha R Phadke
European Journal of Medical Genetics|December 14, 2018
Deletion 7q21.2-q22.1 in a case with split hand-split foot malformation, sensorineural hearing loss and intellectual disability: Phenotype subtypes and the correlation with genotypesArchana Rai, Priyanka Srivastava, Shubha R Phadke
Molecular Syndromology|June 28, 2021
Homozygous Missense Variation in <i>PNPLA8</i> Causes Prenatal-Onset Severe NeurodegenerationSuzena Masih, Amita Moirangthem, Shubha R Phadke
Indian Journal of Pediatrics|August 9, 2020
Pearson Syndrome: Spontaneously Recovering Anemia and Hypoparathyroidism - CorrespondenceJosef Finsterer, Mayank Nilay, Shubha R Phadke
International Journal of Molecular Medicine|October 10, 2002
Carrier analysis and prenatal diagnosis of haemophilia A in North IndiaGouri Shanker Pandey, Shubha R Phadke, Balraj Mittal
Pageof 32

Showing results (81-90 of 311) with videos related to

Sort By:
Pageof 32
Clinical Dysmorphology|April 5, 2008
Congenital swan neck deformity of fingers with syndactylyKausik Mandal, Shubha R Phadke, Jayantee Kalita
American Journal of Medical Genetics. Part A|February 15, 2021
Twins with PEX7 related intellectual disability and cataract: Highlighting phenotypes of peroxisome biogenesis disorder 9BSuzena Masih, Amita Moirangthem, Shubha R Phadke
Indian Pediatrics|November 10, 2017
Double Segment Chromosomal Imbalance due to Inherited Chromosomal Translocation: Detection by Cytogenetic MicroarrayMoni Tuteja, Divya Agarwal, Shubha R Phadke
Indian Journal of Nephrology|November 1, 2016
A novel heterozygous missense mutation in uromodulin gene in an Indian family with familial juvenile hyperuricemic nephropathyD Saxena, P Srivastava, S R Phadke
European Journal of Medical Genetics|May 13, 2018
Sequence variations in TENM3 gene causing eye anomalies with intellectual disability: Expanding the phenotypic spectrumBharti Singh, Priyanka Srivastava, Shubha R Phadke
American Journal of Medical Genetics. Part A|October 4, 2011
Angelman syndrome and prenatally diagnosed Prader-Willi syndrome in first cousinsPrajnya Ranganath, Meenal Agarwal, Shubha R Phadke
European Journal of Medical Genetics|December 14, 2018
Deletion 7q21.2-q22.1 in a case with split hand-split foot malformation, sensorineural hearing loss and intellectual disability: Phenotype subtypes and the correlation with genotypesArchana Rai, Priyanka Srivastava, Shubha R Phadke
Molecular Syndromology|June 28, 2021
Homozygous Missense Variation in <i>PNPLA8</i> Causes Prenatal-Onset Severe NeurodegenerationSuzena Masih, Amita Moirangthem, Shubha R Phadke
Indian Journal of Pediatrics|August 9, 2020
Pearson Syndrome: Spontaneously Recovering Anemia and Hypoparathyroidism - CorrespondenceJosef Finsterer, Mayank Nilay, Shubha R Phadke
International Journal of Molecular Medicine|October 10, 2002
Carrier analysis and prenatal diagnosis of haemophilia A in North IndiaGouri Shanker Pandey, Shubha R Phadke, Balraj Mittal
Pageof 32