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Anne Slavotinek

Showing results (131-140 of 147) with videos related to

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Neurology|July 2, 2017
<i>DNM1</i> encephalopathy: A new disease of vesicle fissionSarah von Spiczak, Katherine L Helbig, Deepali N Shinde, et al.
European Journal of Human Genetics : EJHG|January 20, 2018
Variants in members of the cadherin-catenin complex, CDH1 and CTNND1, cause blepharocheilodontic syndromeAnneke Kievit, Federico Tessadori, Hannie Douben, et al.
American Journal of Human Genetics|April 19, 2023
POLR1A variants underlie phenotypic heterogeneity in craniofacial, neural, and cardiac anomaliesKelly Smallwood, Kristin E N Watt, Satoru Ide, et al.
Annals of Clinical and Translational Neurology|October 24, 2018
Phenotypic expansion in <i>DDX3X</i> - a common cause of intellectual disability in femalesXia Wang, Jennifer E Posey, Jill A Rosenfeld, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 2, 2020
Automated syndrome diagnosis by three-dimensional facial imagingBenedikt Hallgrímsson, J David Aponte, David C Katz, et al.
American Journal of Medical Genetics. Part A|August 26, 2021
Expanding the phenotype of ASXL3-related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3Schaida Schirwani, Shadi Albaba, Deanna Alexis Carere, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 20, 2026
Delineating the clinical and molecular spectrum of the neurodevelopmental disorder associated with SETYuwei Shi, Ananilia Silva, Christophe Debuy, et al.
Genome Medicine|May 22, 2021
Genotype-phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disordersIlaria Mannucci, Nghi D P Dang, Hannes Huber, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 10, 2020
De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathyChiara Klöckner, Heinrich Sticht, Pia Zacher, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 9, 2021
Correction to: De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathyChiara Klöckner, Heinrich Sticht, Pia Zacher, et al.
Pageof 15

Showing results (131-140 of 147) with videos related to

Sort By:
Pageof 15
Neurology|July 2, 2017
<i>DNM1</i> encephalopathy: A new disease of vesicle fissionSarah von Spiczak, Katherine L Helbig, Deepali N Shinde, et al.
European Journal of Human Genetics : EJHG|January 20, 2018
Variants in members of the cadherin-catenin complex, CDH1 and CTNND1, cause blepharocheilodontic syndromeAnneke Kievit, Federico Tessadori, Hannie Douben, et al.
American Journal of Human Genetics|April 19, 2023
POLR1A variants underlie phenotypic heterogeneity in craniofacial, neural, and cardiac anomaliesKelly Smallwood, Kristin E N Watt, Satoru Ide, et al.
Annals of Clinical and Translational Neurology|October 24, 2018
Phenotypic expansion in <i>DDX3X</i> - a common cause of intellectual disability in femalesXia Wang, Jennifer E Posey, Jill A Rosenfeld, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 2, 2020
Automated syndrome diagnosis by three-dimensional facial imagingBenedikt Hallgrímsson, J David Aponte, David C Katz, et al.
American Journal of Medical Genetics. Part A|August 26, 2021
Expanding the phenotype of ASXL3-related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3Schaida Schirwani, Shadi Albaba, Deanna Alexis Carere, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 20, 2026
Delineating the clinical and molecular spectrum of the neurodevelopmental disorder associated with SETYuwei Shi, Ananilia Silva, Christophe Debuy, et al.
Genome Medicine|May 22, 2021
Genotype-phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disordersIlaria Mannucci, Nghi D P Dang, Hannes Huber, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 10, 2020
De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathyChiara Klöckner, Heinrich Sticht, Pia Zacher, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 9, 2021
Correction to: De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathyChiara Klöckner, Heinrich Sticht, Pia Zacher, et al.
Pageof 15