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Human Mutation
|
September 17, 2020
Goldberg-Shprintzen syndrome is determined by the absence, or reduced expression levels, of KIFBP
Katherine C MacKenzie, Bianca M de Graaf, Andreas Syrimis, et al.
Plos Genetics
|
August 6, 2021
Size matters: Large copy number losses in Hirschsprung disease patients reveal genes involved in enteric nervous system development
Laura E Kuil, Katherine C MacKenzie, Clara S Tang, et al.
Lancet (London, England)
|
October 28, 2011
Foley catheter versus vaginal prostaglandin E2 gel for induction of labour at term (PROBAAT trial): an open-label, randomised controlled trial
Marta Jozwiak, Katrien Oude Rengerink, Marjan Benthem, et al.
Nature Genetics
|
January 11, 2011
Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis
Ingrid M B H van de Laar, Rogier A Oldenburg, Gerard Pals, et al.
Circulation Research
|
May 3, 2012
NPHP4 variants are associated with pleiotropic heart malformations
Vanessa M French, Ingrid M B H van de Laar, Marja W Wessels, et al.
Lancet (London, England)
|
February 7, 2016
Induction of labour at term with oral misoprostol versus a Foley catheter (PROBAAT-II): a multicentre randomised controlled non-inferiority trial
Mieke L G Ten Eikelder, Katrien Oude Rengerink, Marta Jozwiak, et al.
American Journal of Perinatology
|
June 25, 2016
Women's Experiences with and Preference for Induction of Labor with Oral Misoprostol or Foley Catheter at Term
Mieke L G Ten Eikelder, Marieke M van de Meent, Kelly Mast, et al.
Journal of Medical Genetics
|
December 15, 2011
Phenotypic spectrum of the SMAD3-related aneurysms-osteoarthritis syndrome
Ingrid M B H van de Laar, Denise van der Linde, Edwin H G Oei, et al.
Journal of the American College of Cardiology
|
April 4, 2015
Mutations in a TGF-β ligand, TGFB3, cause syndromic aortic aneurysms and dissections
Aida M Bertoli-Avella, Elisabeth Gillis, Hiroko Morisaki, et al.
European Journal of Human Genetics : EJHG
|
October 20, 2025
Nanopore long-read sequencing for the critically ill facilitates ultrarapid diagnostics and urgent clinical decision making
Daphne J Smits, Federico Ferraro, Mark Drost, et al.
Page
of 24
Search research articles
Search
Showing results (221-230 of 232) with videos related to
Sort By:
Page
of 24
Human Mutation
|
September 17, 2020
Goldberg-Shprintzen syndrome is determined by the absence, or reduced expression levels, of KIFBP
Katherine C MacKenzie, Bianca M de Graaf, Andreas Syrimis, et al.
Plos Genetics
|
August 6, 2021
Size matters: Large copy number losses in Hirschsprung disease patients reveal genes involved in enteric nervous system development
Laura E Kuil, Katherine C MacKenzie, Clara S Tang, et al.
Lancet (London, England)
|
October 28, 2011
Foley catheter versus vaginal prostaglandin E2 gel for induction of labour at term (PROBAAT trial): an open-label, randomised controlled trial
Marta Jozwiak, Katrien Oude Rengerink, Marjan Benthem, et al.
Nature Genetics
|
January 11, 2011
Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis
Ingrid M B H van de Laar, Rogier A Oldenburg, Gerard Pals, et al.
Circulation Research
|
May 3, 2012
NPHP4 variants are associated with pleiotropic heart malformations
Vanessa M French, Ingrid M B H van de Laar, Marja W Wessels, et al.
Lancet (London, England)
|
February 7, 2016
Induction of labour at term with oral misoprostol versus a Foley catheter (PROBAAT-II): a multicentre randomised controlled non-inferiority trial
Mieke L G Ten Eikelder, Katrien Oude Rengerink, Marta Jozwiak, et al.
American Journal of Perinatology
|
June 25, 2016
Women's Experiences with and Preference for Induction of Labor with Oral Misoprostol or Foley Catheter at Term
Mieke L G Ten Eikelder, Marieke M van de Meent, Kelly Mast, et al.
Journal of Medical Genetics
|
December 15, 2011
Phenotypic spectrum of the SMAD3-related aneurysms-osteoarthritis syndrome
Ingrid M B H van de Laar, Denise van der Linde, Edwin H G Oei, et al.
Journal of the American College of Cardiology
|
April 4, 2015
Mutations in a TGF-β ligand, TGFB3, cause syndromic aortic aneurysms and dissections
Aida M Bertoli-Avella, Elisabeth Gillis, Hiroko Morisaki, et al.
European Journal of Human Genetics : EJHG
|
October 20, 2025
Nanopore long-read sequencing for the critically ill facilitates ultrarapid diagnostics and urgent clinical decision making
Daphne J Smits, Federico Ferraro, Mark Drost, et al.
Page
of 24