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ISSN 1552-4825

82. 6q22.33 microdeletion in a family with intellectual disability, variable major anomalies, and behavioral abnormalities. (3rd September 2015)

Authors:
Mackenroth, Luisa; Hackmann, Karl; Beyer, Anke; Schallner, Jens; Novotna, Barbara; Klink, Barbara; Schröck, Evelin; Di Donato, Nataliya
Journal:
American journal of medical genetics
Issue:
Volume 167:Number 11(2015:Nov.)
Page Start:
2800
Record Type:
Journal Article
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83. 6q25.1 (TAB2) microdeletion syndrome: Congenital heart defects and cardiomyopathy. Issue 7 (2nd May 2017)

Authors:
Cheng, Andrew; Dinulos, Mary Beth P.; Neufeld‐Kaiser, Whitney; Rosenfeld, Jill; Kyriss, McKenna; Madan‐Khetarpal, Suneeta; Risheg, Hiba; Byers, Peter H.; Liu, Yajuan J.
Journal:
American journal of medical genetics
Issue:
Volume 173:Issue 7(2017)
Page Start:
1848
Record Type:
Journal Article
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84. 7p22.3 microdeletion disrupting SNX8 in a patient presenting with intellectual disability but no tetralogy of Fallot. Issue 8 (8th April 2014)

Authors:
Rendu, John; Satre, Véronique; Testard, Hervé; Devillard, Francoise; Vieville, Gaëlle; Fauré, Julien; Amblard, Florence; Jouk, Pierre‐Simon; Coutton, Charles
Journal:
American journal of medical genetics
Issue:
Volume 164:Issue 8(2014.)
Page Start:
2133
Record Type:
Journal Article
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85. 7q11.23 Duplication syndrome: Physical characteristics and natural history. (3rd September 2015)

Authors:
Morris, Colleen A.; Mervis, Carolyn B.; Paciorkowski, Alex P.; Abdul‐Rahman, Omar; Dugan, Sarah L.; Rope, Alan F.; Bader, Patricia; Hendon, Laura G.; Velleman, Shelley L.; Klein‐Tasman, Bonita P.; Osborne, Lucy R.
Journal:
American journal of medical genetics
Issue:
Volume 167:Number 12(2015:Dec.)
Page Start:
2916
Record Type:
Journal Article
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87. 8p23.1 deletion: Look out for left ventricular hypertrabeculation and not only congenital heart diseases. Single‐center experience and literature revision. Issue 3 (13th December 2021)

Authors:
Cicenia, Marianna; Alesi, Viola; Orlando, Valeria; Magliozzi, Monia; Di Tommaso, Silvia; Iodice, Francesca G.; Pompei, Emanuela; Toscano, Alessandra; Digilio, Maria C.; Drago, Fabrizio; Novelli, Antonio; Baban, Anwar
Journal:
American journal of medical genetics
Issue:
Volume 188:Issue 3(2022)
Page Start:
883
Record Type:
Journal Article
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89. 8p23.1 duplication syndrome; common, confirmed, and novel features in six further patients1. Issue 3 (23rd January 2013)

Authors:
Barber, John C.K.; Rosenfeld, Jill A.; Foulds, Nicola; Laird, Sophie; Bateman, Mark S.; Thomas, N. Simon; Baker, Samantha; Maloney, Viv K.; Anilkumar, Arayamparambil; Smith, Wendy E.; Banks, Valerie; Ellingwood, Sara; Kharbutli, Yara; Mehta, Lakshmi; Eddleman, Keith A.; Marble, Michael; Zambrano,...
Journal:
American journal of medical genetics
Issue:
Volume 161:Issue 3(2013:Mar.)
Page Start:
487
Record Type:
Journal Article
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