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Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
November 27, 2020
De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females
D L Polla, E J Bhoj, J B G M Verheij, et al.
BMC Cancer
|
October 22, 2018
Preoperative image-guided identification of response to neoadjuvant chemoradiotherapy in esophageal cancer (PRIDE): a multicenter observational study
A S Borggreve, S Mook, M Verheij, et al.
Gastroenterology
|
April 1, 2018
Intestinal Failure and Aberrant Lipid Metabolism in Patients With DGAT1 Deficiency
Jorik M van Rijn, Rico Chandra Ardy, Zarife Kuloğlu, et al.
European Journal of Medical Genetics
|
March 21, 2015
Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome
Saskia M Maas, Adam C Shaw, Hennie Bikker, et al.
Genome Biology
|
March 10, 2017
Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes
Hongsheng Gui, Duco Schriemer, William W Cheng, et al.
HGG Advances
|
February 14, 2023
Whole genome sequencing for <i>USH2A</i>-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction
Janine Reurink, Nicole Weisschuh, Alejandro Garanto, et al.
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of 46
Search research articles
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Showing results (451-460 of 456) with videos related to
Sort By:
Page
of 46
You have reached the last page of results.
This site can display upto 456 results.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
November 27, 2020
De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females
D L Polla, E J Bhoj, J B G M Verheij, et al.
BMC Cancer
|
October 22, 2018
Preoperative image-guided identification of response to neoadjuvant chemoradiotherapy in esophageal cancer (PRIDE): a multicenter observational study
A S Borggreve, S Mook, M Verheij, et al.
Gastroenterology
|
April 1, 2018
Intestinal Failure and Aberrant Lipid Metabolism in Patients With DGAT1 Deficiency
Jorik M van Rijn, Rico Chandra Ardy, Zarife Kuloğlu, et al.
European Journal of Medical Genetics
|
March 21, 2015
Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome
Saskia M Maas, Adam C Shaw, Hennie Bikker, et al.
Genome Biology
|
March 10, 2017
Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes
Hongsheng Gui, Duco Schriemer, William W Cheng, et al.
HGG Advances
|
February 14, 2023
Whole genome sequencing for <i>USH2A</i>-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction
Janine Reurink, Nicole Weisschuh, Alejandro Garanto, et al.
Page
of 46