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European Journal of Human Genetics : EJHG
|
August 22, 2013
Clinical and biochemical features guiding the diagnostics in neurometabolic cutis laxa
Thatjana Gardeitchik, Miski Mohamed, Björn Fischer, et al.
Kidney International Reports
|
November 22, 2021
Comprehensive Genetic Analysis Reveals Complexity of Monogenic Urinary Stone Disease
Andrea G Cogal, Jennifer Arroyo, Ronak Jagdeep Shah, et al.
American Journal of Human Genetics
|
December 25, 2012
Mutations in ECEL1 cause distal arthrogryposis type 5D
Margaret J McMillin, Jennifer E Below, Kathryn M Shively, et al.
American Journal of Human Genetics
|
December 24, 2013
Mutations in CSPP1 cause primary cilia abnormalities and Joubert syndrome with or without Jeune asphyxiating thoracic dystrophy
Karina Tuz, Ruxandra Bachmann-Gagescu, Diana R O'Day, et al.
Frontiers in Immunology
|
December 28, 2020
Prenatal Diagnosis for Primary Immunodeficiency Disorders-An Overview of the Indian Scenario
Reetika Malik Yadav, Maya Gupta, Aparna Dalvi, et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc
|
February 22, 2018
The genetics of recurrent hydatidiform moles: new insights and lessons from a comprehensive analysis of 113 patients
Ngoc Minh Phuong Nguyen, Yassemine Khawajkie, Nawel Mechtouf, et al.
Journal of Medical Genetics
|
April 12, 2020
Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability
Martin Chevarin, Yannis Duffourd, Rebecca A Barnard, et al.
Brain : a Journal of Neurology
|
September 28, 2023
Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies
Annette Lischka, Katja Eggermann, Christopher J Record, et al.
Page
of 4
Search research articles
Search
Showing results (31-40 of 38) with videos related to
Sort By:
Page
of 4
You have reached the last page of results.
This site can display upto 38 results.
European Journal of Human Genetics : EJHG
|
August 22, 2013
Clinical and biochemical features guiding the diagnostics in neurometabolic cutis laxa
Thatjana Gardeitchik, Miski Mohamed, Björn Fischer, et al.
Kidney International Reports
|
November 22, 2021
Comprehensive Genetic Analysis Reveals Complexity of Monogenic Urinary Stone Disease
Andrea G Cogal, Jennifer Arroyo, Ronak Jagdeep Shah, et al.
American Journal of Human Genetics
|
December 25, 2012
Mutations in ECEL1 cause distal arthrogryposis type 5D
Margaret J McMillin, Jennifer E Below, Kathryn M Shively, et al.
American Journal of Human Genetics
|
December 24, 2013
Mutations in CSPP1 cause primary cilia abnormalities and Joubert syndrome with or without Jeune asphyxiating thoracic dystrophy
Karina Tuz, Ruxandra Bachmann-Gagescu, Diana R O'Day, et al.
Frontiers in Immunology
|
December 28, 2020
Prenatal Diagnosis for Primary Immunodeficiency Disorders-An Overview of the Indian Scenario
Reetika Malik Yadav, Maya Gupta, Aparna Dalvi, et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc
|
February 22, 2018
The genetics of recurrent hydatidiform moles: new insights and lessons from a comprehensive analysis of 113 patients
Ngoc Minh Phuong Nguyen, Yassemine Khawajkie, Nawel Mechtouf, et al.
Journal of Medical Genetics
|
April 12, 2020
Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability
Martin Chevarin, Yannis Duffourd, Rebecca A Barnard, et al.
Brain : a Journal of Neurology
|
September 28, 2023
Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies
Annette Lischka, Katja Eggermann, Christopher J Record, et al.
Page
of 4