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Subject 616.042

83. 18q12.3‐q21.1 microdeletion detected in the prenatally alcohol‐exposed dizygotic twin with discordant fetal alcohol syndrome phenotype. Issue 4 (25th February 2020)

Authors:
Kahila, Hanna; Marjonen, Heidi; Auvinen, Pauliina; Avela, Kristiina; Riikonen, Raili; Kaminen‐Ahola, Nina
Journal:
Molecular genetics & genomic medicine
Issue:
Volume 8:Issue 4(2020)
Page Start:
n/a
Record Type:
Journal Article
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85. 1993–2014: two decades of predictive testing for Huntington's disease at the Medical Genetics Unit of the University of Genoa. Issue 5 (17th June 2017)

Authors:
Mandich, Paola; Lamp, Merit; Gotta, Fabio; Gulli, Rossella; Iacometti, Ariela; Marchese, Roberta; Bellone, Emilia; Abbruzzese, Giovanni; Ferrandes, Giovanna
Journal:
Molecular genetics & genomic medicine
Issue:
Volume 5:Issue 5(2017)
Page Start:
473
Record Type:
Journal Article
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86. 19p13 microduplications encompassing NFIX are responsible for intellectual disability, short stature and small head circumference. (January 2018)

Authors:
Trimouille, Aurélien; Houcinat, Nada; Vuillaume, Marie-Laure; Fergelot, Patricia; Boucher, Cécile; Toutain, Jérôme; Caignec, Cédric; Vincent, Marie; Nizon, Mathilde; Andrieux, Joris; Vanlerberghe, Clémence; Delobel, Bruno; Duban, Bénédicte; Mansour, Sahar; Baple, Emma; McKeown, Colina; Poke, Gemm...
Journal:
European journal of human genetics
Issue:
Volume 26:Number 1(2018)
Page Start:
85
Record Type:
Journal Article
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87. 19q13.11 deletion syndrome: a novel clinically recognisable genetic condition identified by array comparative genomic hybridisation. Issue 9 (6th January 2009)

Authors:
Malan, V; Raoul, O; Firth, H V; Royer, G; Turleau, C; Bernheim, A; Willatt, L; Munnich, A; Vekemans, M; Lyonnet, S; Cormier-Daire, V; Colleaux, L
Journal:
Journal of medical genetics
Issue:
Volume 46:Issue 9(2009)
Page Start:
635
Record Type:
Journal Article
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88. 2013 Review and Update of the Genetic Counseling Practice Based Competencies by a Task Force of the Accreditation Council for Genetic Counseling. Issue 5 (23rd June 2016)

Authors:
Doyle, Debra Lochner; Awwad, Rawan I.; Austin, Jehannine C.; Baty, Bonnie J.; Bergner, Amanda L.; Brewster, Stephanie J.; Erby, Lori A. H.; Franklin, Cathi Rubin; Greb, Anne E.; Grubs, Robin E.; Hooker, Gillian W.; Noblin, Sarah Jane; Ormond, Kelly E.; Palmer, Christina G.; Petty, Elizabeth M.; S...
Journal:
Journal of genetic counseling
Issue:
Volume 25:Issue 5(2016)
Page Start:
868
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗