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Molecular Syndromology
|
April 13, 2019
Genetic Causes of Craniosynostosis: An Update
Jacqueline A C Goos, Irene M J Mathijssen
Plos One
|
May 5, 2012
Distribution of glycine/GABA neurons in the ventromedial medulla with descending spinal projections and evidence for an ascending glycine/GABA projection
Mehdi Hossaini, Jacqueline A C Goos, Somesh K Kohli, et al.
Gastrointestinal Endoscopy
|
February 15, 2024
Diagnostic yield of endoscopic and EUS-guided biopsy techniques in subepithelial lesions of the upper GI tract: a systematic review
Cynthia A Verloop, Jacqueline A C Goos, Marco J Bruno, et al.
European Journal of Orthodontics
|
August 23, 2021
Evaluation of dental maturity in Muenke syndrome, Saethre-Chotzen syndrome, and TCF12-related craniosynostosis
Tsun M Choi, Gem J C Kramer, Jacqueline A C Goos, et al.
European Journal of Human Genetics : EJHG
|
November 1, 2021
Identification of a novel variant of the ciliopathic gene FUZZY associated with craniosynostosis
William B Barrell, Hadeel Adel Al-Lami, Jacqueline A C Goos, et al.
BMC Medical Genetics
|
September 2, 2014
Apparently synonymous substitutions in FGFR2 affect splicing and result in mild Crouzon syndrome
Aimee L Fenwick, Jacqueline A C Goos, Julia Rankin, et al.
American Journal of Medical Genetics. Part A
|
November 27, 2014
A novel mutation in FGFR2
Jacqueline A C Goos, Ans M W van den Ouweland, Sigrid M A Swagemakers, et al.
Human Molecular Genetics
|
May 9, 2019
A de novo substitution in BCL11B leads to loss of interaction with transcriptional complexes and craniosynostosis
Jacqueline A C Goos, Walter K Vogel, Hana Mlcochova, et al.
Human Mutation
|
May 10, 2016
Identification of Intragenic Exon Deletions and Duplication of TCF12 by Whole Genome or Targeted Sequencing as a Cause of TCF12-Related Craniosynostosis
Jacqueline A C Goos, Aimee L Fenwick, Sigrid M A Swagemakers, et al.
American Journal of Human Genetics
|
September 5, 2015
Gain-of-Function Mutations in ZIC1 Are Associated with Coronal Craniosynostosis and Learning Disability
Stephen R F Twigg, Jennifer Forecki, Jacqueline A C Goos, et al.
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of 2
Search research articles
Search
Showing results (1-10 of 18) with videos related to
Sort By:
Page
of 2
Molecular Syndromology
|
April 13, 2019
Genetic Causes of Craniosynostosis: An Update
Jacqueline A C Goos, Irene M J Mathijssen
Plos One
|
May 5, 2012
Distribution of glycine/GABA neurons in the ventromedial medulla with descending spinal projections and evidence for an ascending glycine/GABA projection
Mehdi Hossaini, Jacqueline A C Goos, Somesh K Kohli, et al.
Gastrointestinal Endoscopy
|
February 15, 2024
Diagnostic yield of endoscopic and EUS-guided biopsy techniques in subepithelial lesions of the upper GI tract: a systematic review
Cynthia A Verloop, Jacqueline A C Goos, Marco J Bruno, et al.
European Journal of Orthodontics
|
August 23, 2021
Evaluation of dental maturity in Muenke syndrome, Saethre-Chotzen syndrome, and TCF12-related craniosynostosis
Tsun M Choi, Gem J C Kramer, Jacqueline A C Goos, et al.
European Journal of Human Genetics : EJHG
|
November 1, 2021
Identification of a novel variant of the ciliopathic gene FUZZY associated with craniosynostosis
William B Barrell, Hadeel Adel Al-Lami, Jacqueline A C Goos, et al.
BMC Medical Genetics
|
September 2, 2014
Apparently synonymous substitutions in FGFR2 affect splicing and result in mild Crouzon syndrome
Aimee L Fenwick, Jacqueline A C Goos, Julia Rankin, et al.
American Journal of Medical Genetics. Part A
|
November 27, 2014
A novel mutation in FGFR2
Jacqueline A C Goos, Ans M W van den Ouweland, Sigrid M A Swagemakers, et al.
Human Molecular Genetics
|
May 9, 2019
A de novo substitution in BCL11B leads to loss of interaction with transcriptional complexes and craniosynostosis
Jacqueline A C Goos, Walter K Vogel, Hana Mlcochova, et al.
Human Mutation
|
May 10, 2016
Identification of Intragenic Exon Deletions and Duplication of TCF12 by Whole Genome or Targeted Sequencing as a Cause of TCF12-Related Craniosynostosis
Jacqueline A C Goos, Aimee L Fenwick, Sigrid M A Swagemakers, et al.
American Journal of Human Genetics
|
September 5, 2015
Gain-of-Function Mutations in ZIC1 Are Associated with Coronal Craniosynostosis and Learning Disability
Stephen R F Twigg, Jennifer Forecki, Jacqueline A C Goos, et al.
Page
of 2