Works by Nowaczyk, Malgorzata J.M.

Results: 16

Dosage effect of zero to three functional LBR-genes in vivo and in vitro.

Published in:

Nucleus (1949-1034), 2010, v. 1, n. 2, p. 179, doi. 10.4161/nucl.1.2.11113

By:

Gravemann, Sophia;
Schnipper, Nele;
Meyer, Hannes;
Vaya, Amparo;
Nowaczyk, Malgorzata J.M.;
Rajab, Anna;
Hofmann, Wolf-Karsten;
Salewsky, Bastian;
Tönnies, Holger;
Neitzel, Heidemarie;
Stassen, Hans H.;
Sperling, Karl;
Hoffmann, Katrin

Publication type:

Article

Smith-Lemli-Opitz syndrome: a treatable inherited error of metabolism causing mental retardation.

Published in:

Canadian Medical Association Journal (CMAJ), 1999, v. 161, n. 2, p. 165

By:

Nowaczyk, Malgorzata J.M.;
Whelan, Donald T.;
Heshka, Timothy W.;
Hill, Robert E.

Publication type:

Article

Identification of nine novel DHCR7 missense mutations in patients with Smith-Lemli-Opitz syndrome (SLOS).

Published in:

Human Mutation, 2005, v. 26, n. 1, p. 59, doi. 10.1002/humu.9346

By:

Waye, John S.;
Krakowiak, Patrycja A.;
Wassif, Christopher A.;
Sterner, Allison L.;
Eng, Barry;
Nakamura, Lisa M.;
Nowaczyk, Małgorzata J.M.;
Porter, Forbes D.

Publication type:

Article

Beyond the Pale. Folklore, family and the mystery of our hidden genes by Emily Urquhart. Harper collins, Canada. ISBN: 9780062389169/10: 0062389165, 288 p.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 10, p. 2375, doi. 10.1002/ajmg.a.37199

By:

Nowaczyk, Malgorzata J.M.

Publication type:

Article

Far from the tree: Parents, children, and the search for identity by Andrew Solomon.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 9, p. 2412, doi. 10.1002/ajmg.a.36642

By:

Nowaczyk, Małgorzata J.M.

Publication type:

Article

The Still Point of the Turning World.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 5, p. 1338, doi. 10.1002/ajmg.a.36443

By:

Nowaczyk, Małgorzata J.M.

Publication type:

Article

Narrative medicine: A call to pens.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 9, p. 2117, doi. 10.1002/ajmg.a.36114

By:

Nowaczyk, Małgorzata J.M.;
Carey, John C.

Publication type:

Article

Duplication of AKT 3 as a cause of macrocephaly in duplication 1q43q44.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 8, p. 2016, doi. 10.1002/ajmg.a.35999

By:

Wang, David;
Zeesman, Susan;
Tarnopolsky, Mark A.;
Nowaczyk, Małgorzata J.M.

Publication type:

Article

Trisomy 22 Mosaicism and Normal Developmental Outcome: Report of Two Patients and Review of the Literature.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 5, p. 1126, doi. 10.1002/ajmg.a.35812

By:

Abdelgadir, Dalal;
Nowaczyk, Malgorzata J.M.;
Li, Chumei

Publication type:

Article

Growth charts for individuals with Smith-Lemli-Opitz syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 11, p. 2707, doi. 10.1002/ajmg.a.35376

By:

Lee, Ryan W.Y.;
McGready, John;
Conley, Sandra K.;
Yanjanin, Nicole M.;
Nowaczyk, Małgorzata J.M.;
Porter, Forbes D.

Publication type:

Article

SMARCAL1 deficiency predisposes to non-Hodgkin lymphoma and hypersensitivity to genotoxic agents in vivo.

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 9, p. 2204, doi. 10.1002/ajmg.a.35532

By:

Baradaran-Heravi, Alireza;
Raams, Anja;
Lubieniecka, Joanna;
Cho, Kyoung Sang;
DeHaai, Kristi A.;
Basiratnia, Mitra;
Mari, Pierre-Olivier;
Xue, Yutong;
Rauth, Michael;
Olney, Ann Haskins;
Shago, Mary;
Choi, Kunho;
Weksberg, Rosanna A.;
Nowaczyk, Malgorzata J.M.;
Wang, Weidong;
Jaspers, Nicolaas G.J.;
Boerkoel, Cornelius F.

Publication type:

Article

Identification of a prenatal profile of Cornelia de Lange syndrome (CdLS): A review of 53 CdLS pregnancies.

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 8, p. 1848, doi. 10.1002/ajmg.a.35410

By:

Clark, Dinah M.;
Sherer, Ilana;
Deardorff, Matthew A.;
Byrne, Janice L.B.;
Loomes, Kathleen M.;
Nowaczyk, Malgorzata J.M.;
Jackson, Laird G.;
Krantz, Ian D.

Publication type:

Article

Narrative medicine in clinical genetics practice.

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 8, p. 1941, doi. 10.1002/ajmg.a.35482

By:

Nowaczyk, Małgorzata J.M.

Publication type:

Article

Microdeletion in distal 17p13.1: A recognizable phenotype with microcephaly, distinctive facial features, and intellectual disability.

Published in:

2012

By:

Zeesman, Susan;
Kjaergaard, Susanne;
Hove, Hanne D.;
Kirchhoff, Maria;
Stevens, Jadd M.;
Nowaczyk, Małgorzata J.M.

Publication type:

Other

Smith-Lemli-Opitz syndrome: Objective assessment of facial phenotype.

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 5, p. 1020, doi. 10.1002/ajmg.a.35285

By:

Nowaczyk, Małgorzata J.M.;
Tan, Mattea;
Hamid, Jemila S.;
Allanson, Judith E.

Publication type:

Article

Epiphyseal stippling is not a feature of 7-dehydrocholesterol reductase deficiency (Smith-Lemli-Opitz syndrome).

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 4, p. 940, doi. 10.1002/ajmg.a.33937

By:

Nowaczyk, Małgorzata J.M.

Publication type:

Article