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Anne M Slavotinek

Showing results (21-30 of 93) with videos related to

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American Journal of Medical Genetics. Part A|May 20, 2014
De novo ANKRD11 and KDM1A gene mutations in a male with features of KBG syndrome and Kabuki syndromeSanjin Tunovic, James Barkovich, Elliott H Sherr, et al.
The Cleft Palate-Craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association|October 29, 2009
Hypodontia in Beare-Stevenson syndrome: an example of dental anomalies in FGFR-related craniosynostosis syndromesYou-Chen Tao, Anne M Slavotinek, Karin Vargervik, et al.
Clinical Genetics|March 22, 2021
Third case of Bardet-Biedl syndrome caused by a biallelic variant predicted to affect splicing of IFT74Anne H Mardy, Ugur Hodoglugil, Tiffany Yip, et al.
American Journal of Medical Genetics. Part A|September 30, 2017
Clinical Report: Warsaw Breakage Syndrome with small radii and fibulaeSarah Eppley, Robert J Hopkin, Bryce Mendelsohn, et al.
American Journal of Medical Genetics|July 13, 2002
Report of a child with aortic aneurysm, orofacial clefting, hemangioma, upper sternal defect, and marfanoid features: possible PHACE syndromeAnne M Slavotinek, Elizabeth Dubovsky, Harry C Dietz, et al.
American Journal of Medical Genetics. Part A|May 19, 2009
Congenital diaphragmatic hernia and microtia in a newborn with mycophenolate mofetil (MMF) exposure: phenocopy for Fryns syndrome or broad spectrum of teratogenic effects?Melissa A Parisi, Hatem Zayed, Anne M Slavotinek, et al.
European Journal of Medical Genetics|June 14, 2020
A missense variant, p.(Ile269Asn), in MC4R as a secondary finding in a child with BCL11A-related intellectual disabilityDaniah T Beleford, Jessica Van Ziffle, Ugur Hodoglugil, et al.
American Journal of Medical Genetics. Part A|November 18, 2010
Clinical report of microphthalmia and optic nerve coloboma associated with a de novo microdeletion of chromosome 16p11.2Tanya M Bardakjian, Simon Kwok, Anne M Slavotinek, et al.
American Journal of Medical Genetics. Part A|November 17, 2007
Population-based analysis of left- and right-sided diaphragmatic hernias demonstrates different frequencies of selected additional anomaliesAnne M Slavotinek, Barbara Warmerdam, Angela E Lin, et al.
American Journal of Medical Genetics. Part A|May 14, 2014
Advanced bone age in a girl with Wiedemann-Steiner syndrome and an exonic deletion in KMT2A (MLL)Bryce A Mendelsohn, Melissa Pronold, Roger Long, et al.
Pageof 10

Showing results (21-30 of 93) with videos related to

Sort By:
Pageof 10
American Journal of Medical Genetics. Part A|May 20, 2014
De novo ANKRD11 and KDM1A gene mutations in a male with features of KBG syndrome and Kabuki syndromeSanjin Tunovic, James Barkovich, Elliott H Sherr, et al.
The Cleft Palate-Craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association|October 29, 2009
Hypodontia in Beare-Stevenson syndrome: an example of dental anomalies in FGFR-related craniosynostosis syndromesYou-Chen Tao, Anne M Slavotinek, Karin Vargervik, et al.
Clinical Genetics|March 22, 2021
Third case of Bardet-Biedl syndrome caused by a biallelic variant predicted to affect splicing of IFT74Anne H Mardy, Ugur Hodoglugil, Tiffany Yip, et al.
American Journal of Medical Genetics. Part A|September 30, 2017
Clinical Report: Warsaw Breakage Syndrome with small radii and fibulaeSarah Eppley, Robert J Hopkin, Bryce Mendelsohn, et al.
American Journal of Medical Genetics|July 13, 2002
Report of a child with aortic aneurysm, orofacial clefting, hemangioma, upper sternal defect, and marfanoid features: possible PHACE syndromeAnne M Slavotinek, Elizabeth Dubovsky, Harry C Dietz, et al.
American Journal of Medical Genetics. Part A|May 19, 2009
Congenital diaphragmatic hernia and microtia in a newborn with mycophenolate mofetil (MMF) exposure: phenocopy for Fryns syndrome or broad spectrum of teratogenic effects?Melissa A Parisi, Hatem Zayed, Anne M Slavotinek, et al.
European Journal of Medical Genetics|June 14, 2020
A missense variant, p.(Ile269Asn), in MC4R as a secondary finding in a child with BCL11A-related intellectual disabilityDaniah T Beleford, Jessica Van Ziffle, Ugur Hodoglugil, et al.
American Journal of Medical Genetics. Part A|November 18, 2010
Clinical report of microphthalmia and optic nerve coloboma associated with a de novo microdeletion of chromosome 16p11.2Tanya M Bardakjian, Simon Kwok, Anne M Slavotinek, et al.
American Journal of Medical Genetics. Part A|November 17, 2007
Population-based analysis of left- and right-sided diaphragmatic hernias demonstrates different frequencies of selected additional anomaliesAnne M Slavotinek, Barbara Warmerdam, Angela E Lin, et al.
American Journal of Medical Genetics. Part A|May 14, 2014
Advanced bone age in a girl with Wiedemann-Steiner syndrome and an exonic deletion in KMT2A (MLL)Bryce A Mendelsohn, Melissa Pronold, Roger Long, et al.
Pageof 10