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Clinical Dysmorphology
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April 5, 2008
Congenital swan neck deformity of fingers with syndactyly
Kausik 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 9B
Suzena Masih, Amita Moirangthem, Shubha R Phadke
Indian Pediatrics
|
November 10, 2017
Double Segment Chromosomal Imbalance due to Inherited Chromosomal Translocation: Detection by Cytogenetic Microarray
Moni 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 nephropathy
D 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 spectrum
Bharti 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 cousins
Prajnya 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 genotypes
Archana Rai, Priyanka Srivastava, Shubha R Phadke
Molecular Syndromology
|
June 28, 2021
Homozygous Missense Variation in <i>PNPLA8</i> Causes Prenatal-Onset Severe Neurodegeneration
Suzena Masih, Amita Moirangthem, Shubha R Phadke
Indian Journal of Pediatrics
|
August 9, 2020
Pearson Syndrome: Spontaneously Recovering Anemia and Hypoparathyroidism - Correspondence
Josef Finsterer, Mayank Nilay, Shubha R Phadke
International Journal of Molecular Medicine
|
October 10, 2002
Carrier analysis and prenatal diagnosis of haemophilia A in North India
Gouri Shanker Pandey, Shubha R Phadke, Balraj Mittal
Page
of 32
Search research articles
Search
Showing results (81-90 of 311) with videos related to
Sort By:
Page
of 32
Clinical Dysmorphology
|
April 5, 2008
Congenital swan neck deformity of fingers with syndactyly
Kausik 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 9B
Suzena Masih, Amita Moirangthem, Shubha R Phadke
Indian Pediatrics
|
November 10, 2017
Double Segment Chromosomal Imbalance due to Inherited Chromosomal Translocation: Detection by Cytogenetic Microarray
Moni 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 nephropathy
D 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 spectrum
Bharti 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 cousins
Prajnya 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 genotypes
Archana Rai, Priyanka Srivastava, Shubha R Phadke
Molecular Syndromology
|
June 28, 2021
Homozygous Missense Variation in <i>PNPLA8</i> Causes Prenatal-Onset Severe Neurodegeneration
Suzena Masih, Amita Moirangthem, Shubha R Phadke
Indian Journal of Pediatrics
|
August 9, 2020
Pearson Syndrome: Spontaneously Recovering Anemia and Hypoparathyroidism - Correspondence
Josef Finsterer, Mayank Nilay, Shubha R Phadke
International Journal of Molecular Medicine
|
October 10, 2002
Carrier analysis and prenatal diagnosis of haemophilia A in North India
Gouri Shanker Pandey, Shubha R Phadke, Balraj Mittal
Page
of 32