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Deirdre Cilliers

Showing results (1-10 of 24) with videos related to

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Prenatal Diagnosis|April 13, 2021
Prenatal chromosome microarray: 'The UK experience'. A survey of reporting practices in UK genetic services (2012-2019)Jenny Patterson, Diana Wellesley, Sian Morgan, et al.
Clinical Dysmorphology|March 14, 2007
Cerebro-facio-thoracic dysplasia: expanding the phenotypeDeirdre Cilliers, Yasemin Alanay, Koray Boduroglu, et al.
The Journal of Craniofacial Surgery|July 21, 2016
The Significance of Squamosal Suture SynostosisKaren A Eley, Gregory P L Thomas, Fintan Sheerin, et al.
Prenatal Diagnosis|October 11, 2022
Prenatal diagnosis of PERCHING syndrome caused by homozygous loss of function variant in the KLHL7 geneMegan Horton-Bell, Sue Hamilton, Rebecca Keelagher, et al.
Prenatal Diagnosis|December 8, 2023
Diagnosis of inborn errors of metabolism through prenatal exome sequencing with targeted analysis for fetal structural anomaliesStephanie K Allen, Natalie J Chandler, Esther Kinning, et al.
American Journal of Medical Genetics. Part A|March 16, 2013
Dermatosparaxis (Ehlers-Danlos type VIIC): prenatal diagnosis following a previous pregnancy with unexpected skull fractures at deliveryJoyce Solomons, Paul Coucke, Sofie Symoens, et al.
Nature Genetics|July 17, 2007
Mutations in RNF135, a gene within the NF1 microdeletion region, cause phenotypic abnormalities including overgrowthJenny Douglas, Deirdre Cilliers, Kim Coleman, et al.
American Journal of Medical Genetics. Part A|July 17, 2010
Refinement of causative genes in monosomy 1p36 through clinical and molecular cytogenetic characterization of small interstitial deletionsJill A Rosenfeld, John A Crolla, Susan Tomkins, et al.
Journal of Anatomy|May 17, 2024
Reassessing the association: Evaluation of a polyalanine deletion variant of RUNX2 in non-syndromic sagittal and metopic craniosynostosisIsaac S Walton, Emma McCann, Astrid Weber, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 7, 2019
Atypical COL3A1 variants (glutamic acid to lysine) cause vascular Ehlers-Danlos syndrome with a consistent phenotype of tissue fragility and skin hyperextensibilityNeeti Ghali, Duncan Baker, Angela F Brady, et al.
Pageof 3

Showing results (1-10 of 24) with videos related to

Sort By:
Pageof 3
Prenatal Diagnosis|April 13, 2021
Prenatal chromosome microarray: 'The UK experience'. A survey of reporting practices in UK genetic services (2012-2019)Jenny Patterson, Diana Wellesley, Sian Morgan, et al.
Clinical Dysmorphology|March 14, 2007
Cerebro-facio-thoracic dysplasia: expanding the phenotypeDeirdre Cilliers, Yasemin Alanay, Koray Boduroglu, et al.
The Journal of Craniofacial Surgery|July 21, 2016
The Significance of Squamosal Suture SynostosisKaren A Eley, Gregory P L Thomas, Fintan Sheerin, et al.
Prenatal Diagnosis|October 11, 2022
Prenatal diagnosis of PERCHING syndrome caused by homozygous loss of function variant in the KLHL7 geneMegan Horton-Bell, Sue Hamilton, Rebecca Keelagher, et al.
Prenatal Diagnosis|December 8, 2023
Diagnosis of inborn errors of metabolism through prenatal exome sequencing with targeted analysis for fetal structural anomaliesStephanie K Allen, Natalie J Chandler, Esther Kinning, et al.
American Journal of Medical Genetics. Part A|March 16, 2013
Dermatosparaxis (Ehlers-Danlos type VIIC): prenatal diagnosis following a previous pregnancy with unexpected skull fractures at deliveryJoyce Solomons, Paul Coucke, Sofie Symoens, et al.
Nature Genetics|July 17, 2007
Mutations in RNF135, a gene within the NF1 microdeletion region, cause phenotypic abnormalities including overgrowthJenny Douglas, Deirdre Cilliers, Kim Coleman, et al.
American Journal of Medical Genetics. Part A|July 17, 2010
Refinement of causative genes in monosomy 1p36 through clinical and molecular cytogenetic characterization of small interstitial deletionsJill A Rosenfeld, John A Crolla, Susan Tomkins, et al.
Journal of Anatomy|May 17, 2024
Reassessing the association: Evaluation of a polyalanine deletion variant of RUNX2 in non-syndromic sagittal and metopic craniosynostosisIsaac S Walton, Emma McCann, Astrid Weber, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 7, 2019
Atypical COL3A1 variants (glutamic acid to lysine) cause vascular Ehlers-Danlos syndrome with a consistent phenotype of tissue fragility and skin hyperextensibilityNeeti Ghali, Duncan Baker, Angela F Brady, et al.
Pageof 3