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American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|March 25, 2010
Severe mental retardation, seizures, and hypotonia due to deletions of MEF2CBeata A Nowakowska, Ewa Obersztyn, Krystyna Szymańska, et al.Human Genome Variation|June 9, 2016
A catalog of hemizygous variation in 127 22q11 deletion patientsMatthew S Hestand, Beata A Nowakowska, Elfi Vergaelen, et al.Journal of Medical Genetics|December 13, 2012
Hemizygous mutations in SNAP29 unmask autosomal recessive conditions and contribute to atypical findings in patients with 22q11.2DSDonna M McDonald-McGinn, Somayyeh Fahiminiya, Timothée Revil, et al.European Journal of Human Genetics : EJHG|September 15, 2011
Parental insertional balanced translocations are an important cause of apparently de novo CNVs in patients with developmental anomaliesBeata A Nowakowska, Nicole de Leeuw, Claudia Al Ruivenkamp, et al.Genes|March 29, 2023
Coexisting Conditions Modifying Phenotypes of Patients with 22q11.2 Deletion SyndromeMarta Smyk, Maciej Geremek, Kamila Ziemkiewicz, et al.Euro Surveillance : Bulletin Europeen Sur Les Maladies Transmissibles = European Communicable Disease Bulletin|September 20, 2011
A five-year perspective on the situation of haemorrhagic fever with renal syndrome and status of the hantavirus reservoirs in Europe, 2005-2010P Heyman, C S Ceianu, I Christova, et al.Human Mutation|September 18, 2010
Detection of clinically relevant exonic copy-number changes by array CGHPhilip M Boone, Carlos A Bacino, Chad A Shaw, et al.Science (New York, N.Y.)|May 2, 2024
Risk of meningomyelocele mediated by the common 22q11.2 deletionKeng Ioi Vong, Sangmoon Lee, Kit Sing Au, et al.Pageof 3