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51

Incidence of Smith-Lemli-Opitz syndrome in Canada: Results of three-year population surveillance

Małgorzata J.M. Nowaczyk, Susan Zeesman, John S. Waye, James D. Douketis

Journal:

The Journal of Pediatrics

Year:

2004

Language:

english

File:

PDF, 142 KB

english, 2004

52

Artificial neural networks in prediction of antifungal activity of a series of pyridine derivatives against Candida albicans

Adam Buciński, Agnieszka Socha, Małgorzata Wnuk, Tomasz Bączek, Alicja Nowaczyk, Jerzy Krysiński, Krzysztof Goryński, Marcin Koba

Journal:

Journal of Microbiological Methods

Year:

2009

Language:

english

File:

PDF, 428 KB

english, 2009

53

Ethylmalonic and methylsuccinic aciduria in ethylmalonic encephalopathy arise from abnormal isoleucine metabolism

Malgorzata J.M. Nowaczyk, Denis C. Lehotay, B.-A. Platt, Larry Fisher, Rosemary Tan, Helen Phillips, J.T.R. Clarke

Journal:

Year:

1998

Language:

english

File:

PDF, 380 KB

english, 1998

54

Smith-Lemli-Opitz syndrome: Phenotype, natural history, and epidemiology

Nowaczyk, Małgorzata J.M., Irons, Mira B.

Journal:

American Journal of Medical Genetics Part C: Seminars in Medical Genetics

Year:

2012

Language:

english

File:

PDF, 725 KB

english, 2012

55

Smith-Lemli-Opitz syndrome and other disorders of cholesterol biosynthesis: An introduction

Nowaczyk, Małgorzata J.M., Cunniff, Christopher

Journal:

American Journal of Medical Genetics Part C: Seminars in Medical Genetics

Year:

2012

Language:

english

File:

PDF, 229 KB

english, 2012

56

Deletions in chromosome 6p22.3-p24.3, includingATXN1, are associated with developmental delay and autism spectrum disorders

Patrícia BS Celestino-Soper, Cindy Skinner, Richard Schroer, Patricia Eng, Jayant Shenai, Malgorzata MJ Nowaczyk, Deborah Terespolsky, Donna Cushing, Gayle S Patel, LaDonna Immken, Alecia Willis, Joan

Journal:

Molecular Cytogenetics

Year:

2012

Language:

english

File:

PDF, 592 KB

english, 2012

57

Prediction of antimicrobial activity of imidazole derivatives by artificial neural networks

Małgorzata Wnuk, Michał Piotr Marszałł, Anna Zapęcka, Alicja Nowaczyk, Jerzy Krysiński, Jerzy Romaszko, Piotr Kawczak, Tomasz Bączek, Adam Buciński

Journal:

Central European Journal of Medicine

Year:

2013

Language:

english

File:

PDF, 1.38 MB

english, 2013

58

Delineation of a deletion region critical for corpus callosal abnormalities in chromosome 1q43–q44

Nagamani, Sandesh C Sreenath, Erez, Ayelet, Bay, Carolyn, Pettigrew, Anjana, Lalani, Seema R, Herman, Kristin, Graham, Brett H, Nowaczyk, Malgorzata JM, Proud, Monica, Craigen, William J, Hopkins, Bob

Journal:

European Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 236 KB

english, 2012

59

SCRIB and PUF60 Are Primary Drivers of the Multisystemic Phenotypes of the 8q24.3 Copy-Number Variant

Dauber, Andrew, Golzio, Christelle, Guenot, Cécile, Jodelka, Francine M., Kibaek, Maria, Kjaergaard, Susanne, Leheup, Bruno, Martinet, Danielle, Nowaczyk, Malgorzata J.M., Rosenfeld, Jill A., Zeesman,

Journal:

The American Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 53 KB

english, 2013

60

Acute Renal Vein Thrombosis, Oral Contraceptive Use, and Hyperhomocysteinemia

Chan, Howard H.W., Douketis, James D., Nowaczyk, Malgorzata J.M.

Journal:

Mayo Clinic Proceedings

Year:

2001

Language:

english

File:

PDF, 35 KB

english, 2001

61

SCRIB and PUF60 Are Primary Drivers of the Multisystemic Phenotypes of the 8q24.3 Copy-Number Variant

Dauber, Andrew, Golzio, Christelle, Guenot, Cécile, Jodelka, Francine M., Kibaek, Maria, Kjaergaard, Susanne, Leheup, Bruno, Martinet, Danielle, Nowaczyk, Malgorzata J.M., Rosenfeld, Jill A., Zeesman,

Journal:

The American Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 1.55 MB

english, 2013

62

Magnetization enhancement in magnetite nanoparticles capped with alginic acid

Andrzejewski, Bartłomiej, Bednarski, Waldemar, Kaźmierczak, Małgorzata, Łapiński, Andrzej, Pogorzelec-Glaser, Katarzyna, Hilczer, Bożena, Jurga, Stefan, Nowaczyk, Grzegorz, Załęski, Karol, Matczak, Mi

Journal:

Composites Part B: Engineering

Year:

2014

Language:

english

File:

PDF, 1.95 MB

english, 2014

63

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

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

Journal:

American Journal of Medical Genetics Part A

Year:

2013

Language:

english

File:

PDF, 1.01 MB

english, 2013

64

The Still Point of the Turning World, Emily Rapp, Penguin Press, 2013.

Nowaczyk, Małgorzata J.M.

Journal:

American Journal of Medical Genetics Part A

Year:

2014

Language:

english

File:

PDF, 52 KB

english, 2014

65

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

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

Journal:

American Journal of Medical Genetics Part A

Year:

2013

Language:

english

File:

PDF, 262 KB

english, 2013

66

Narrative medicine: A call to pens

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

Journal:

American Journal of Medical Genetics Part A

Year:

2013

Language:

english

File:

PDF, 66 KB

english, 2013

67

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

Nowaczyk, Małgorzata J.M.

Journal:

American Journal of Medical Genetics Part A

Year:

2014

Language:

english

File:

PDF, 51 KB

english, 2014

68

Ectomorphic body habitus, microcephaly, developmental delay with characteristic facial phenotype

Nowaczyk, Małgorzata J.M.

Journal:

Clinical Dysmorphology

Year:

2011

Language:

english

File:

PDF, 216 KB

english, 2011

69

Blepharophimosis-ptosis-epicanthus inversus syndrome plus

Zahanova, Stacy, Meaney, Brandon, Łabieniec, Beata, Verdin, Hannah, De Baere, Elfride, Nowaczyk, Małgorzata J.M.

Journal:

Clinical Dysmorphology

Year:

2012

Language:

english

File:

PDF, 208 KB

english, 2012

70

An uncommon 3.4-Mb interstitial deletion at 3q29

Wang, Jia-Chi, Naik, Hetanshi, Khan, Aneal, Nowaczyk, Malgorzata J.M.

Journal:

Clinical Dysmorphology

Year:

2010

Language:

english

File:

PDF, 148 KB

english, 2010

71

The Ocular Manifestations of Jacobsen Syndrome: A Report of Four Cases and a Review of the Literature

Miller, Garfield L., Somani, Sohel, Nowaczyk, Malgorzata J. M., Feigenbaum, Annette, Davidson, Ronald G., Costa, Teresa, Levin, Alex V.

Journal:

Ophthalmic Genetics

Year:

2006

Language:

english

File:

PDF, 1.09 MB

english, 2006

72

Prenatal and Pathologic Features of Aorto-Left Ventricular Tunnel Causing Fetal Hydrops and Intrauterine Demise

Terry, Jefferson, Tapas, Mondal, Nowaczyk, Malgorzata J. M.

Journal:

Pediatric and Developmental Pathology

Year:

2013

Language:

english

File:

PDF, 4.33 MB

english, 2013

73

Fetal Autopsy Findings of Cardiofaciocutaneous Syndrome with a Unique BRAF Mutation

Terry, Jefferson, Rauen, Katherine A, Nowaczyk, Malgorzata J. M

Journal:

Pediatric and Developmental Pathology

Year:

2014

Language:

english

File:

PDF, 4.65 MB

english, 2014

74

The atypical response regulator HP1021 controls formation of the H elicobacter pylori replication initiation complex

Donczew, Rafał, Makowski, Łukasz, Jaworski, Paweł, Bezulska, Martyna, Nowaczyk, Małgorzata, Zakrzewska-Czerwińska, Jolanta, Zawilak-Pawlik, Anna

Journal:

Molecular Microbiology

Year:

2015

Language:

english

File:

PDF, 3.19 MB

english, 2015

75

Brain metastasis as the first symptom of gastric cancer – case report and literature review

Murawa, Dawid, Nowaczyk, Piotr, Szymkowiak, Małgorzata, Karaszewska, Bogusława

Journal:

Polish Journal of Surgery

Year:

2013

Language:

english

File:

PDF, 246 KB

english, 2013

76

New sorbent materials for selective extraction of cocaine and benzoylecgonine from human urine samples

Bujak, Renata, Gadzała-Kopciuch, Renata, Nowaczyk, Alicja, Raczak-Gutknecht, Joanna, Kordalewska, Marta, Struck-Lewicka, Wiktoria, Waszczuk-Jankowska, Małgorzata, Tomczak, Ewa, Kaliszan, Michał, Busze

Journal:

Journal of Pharmaceutical and Biomedical Analysis

Year:

2015

Language:

english

File:

PDF, 534 KB

english, 2015

77

Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis

Bennett, James T., Tan, Tiong Yang, Alcantara, Diana, Tétrault, Martine, Timms, Andrew E., Jensen, Dana, Collins, Sarah, Nowaczyk, Malgorzata J.M., Lindhurst, Marjorie J., Christensen, Katherine M., B

Journal:

The American Journal of Human Genetics

Year:

2016

Language:

english

File:

PDF, 941 KB

english, 2016

78

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

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

Journal:

Nucleus (Landes Bioscience)

Year:

2010

Language:

english

File:

PDF, 2.63 MB

english, 2010

79

Molecular characterization of NRXN1 deletions from 19,263 clinical microarray cases identifies exons important for neurodevelopmental disease expression

Lowther, Chelsea, Speevak, Marsha, Armour, Christine M., Goh, Elaine S., Graham, Gail E., Li, Chumei, Zeesman, Susan, Nowaczyk, Malgorzata J.M., Schultz, Lee-Anne, Morra, Antonella, Nicolson, Rob, Bik

Journal:

Genetics in Medicine

Year:

2016

Language:

english

File:

PDF, 738 KB

english, 2016

80

Ultrasound Assessment of Fetal Chromosomal Abnormalities: A Pictorial Review

MERNAGH, JOHN R., MOHIDE, PATRICK, CACO, CHRISTOPHER, NOWACZYK, MALGORZATA J.M., FEDORYSHIN, JIM

Journal:

The Radiologist

Year:

2001

Language:

english

File:

PDF, 6.53 MB

english, 2001

81

e Renal Vein Thrombosis, Oral Contraceptive Use, and Hyperhomocysteinemia

Chan, Howard H.W., Douketis, James D., Nowaczyk, Malgorzata J.M.

Journal:

Mayo Clinic Proceedings

Year:

2001

Language:

english

File:

PDF, 35 KB

english, 2001

82

Ultrasonographic Assessment of the First Trimester Fetus: A Pictorial Review

MERNAGH, JOHN R., MOHIDE, PATRICK, FEDORYSHIN, JIM, CACO, CHRISTOPHER, NOWACZYK, MALGORZATA J.

Journal:

The Radiologist

Year:

2002

Language:

english

File:

PDF, 1.30 MB

english, 2002

83

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

Nowaczyk, Malgorzata J.M.

Journal:

American Journal of Medical Genetics Part A

Year:

2015

Language:

english

File:

PDF, 90 KB

english, 2015

84

Partial monosomy 1q43 and partial trisomy 20q13.2

Ho, Boey S., McCready, Elizabeth, Nowaczyk, Malgorzata J.M.

Journal:

Clinical Dysmorphology

Year:

2016

Language:

english

File:

PDF, 256 KB

english, 2016

85

Prader-Willi syndrome and Tay-Sachs disease in association with mixed maternal uniparental isodisomy and heterodisomy 15 in a girl who also had isochromosome Xq

Zeesman, Susan, McCready, Elizabeth, Sadikovic, Bekim, Nowaczyk, Małgorzata JM

Journal:

American Journal of Medical Genetics Part A

Year:

2015

Language:

english

File:

PDF, 445 KB

english, 2015

86

The natural history of a clinical geneticist

Nowaczyk, Małgorzata J.

Journal:

American Journal of Medical Genetics Part A

Year:

2016

Language:

english

File:

PDF, 68 KB

english, 2016

87

Ultrasound Assessment of Complex Fetal Syndromes

MERNAGH, JOHN R., MOHIDE, PATRICK, CACO, CHRISTOPHER, WESTON, HEATHER, GIBBS, KATHY, NOWACZYK, MALGORZATA J., BOURGEOIS, JACQUELINE

Journal:

The Radiologist

Year:

2003

Language:

english

File:

PDF, 4.58 MB

english, 2003

88

Novel disease-causing mutations in the dihydropyrimidine dehydrogenase gene interpreted by analysis of the three-dimensional protein structure

van KUILENBURG, André B.P., DOBRITZSCH, Doreen, MEINSMA, Rutger, HAASJES, Janet, WATERHAM, Hans R., NOWACZYK, Malgorzata J.M., MAROPOULOS, George D., HEIN, Guido, KALHOFF, Hermann, KIRK, Jean M., BAAS

Journal:

Biochemical Journal

Year:

2002

Language:

english

File:

PDF, 218 KB

english, 2002

89

A novel multisystem disease associated with recessive mutations in the tyrosyl-tRNA synthetase ( YARS ) gene

Nowaczyk, Małgorzata J. M., Huang, Lijia, Tarnopolsky, Mark, Schwartzentruber, Jeremy, Majewski, Jacek, Bulman, Dennis E., Hartley, Taila, Boycott, Kym M.

Journal:

American Journal of Medical Genetics Part A

Year:

2016

Language:

english

File:

PDF, 1.95 MB

english, 2016

90

MG-123 Exonic and intronic NRXN1 deletions: Novel genotype-phenotype correlations

Lowther, Chelsea, Speevak, Marsha, Armour, Christine, Goh, Elaine, Graham, Gail, Li, Chumei, Zeesman, Susan, Nowaczyk, Malgorzata JM, Schultz, Lee-Anne, Morra, Antonella, Nicolson, Robert, Rajguru, Ma

Journal:

Journal of Medical Genetics

Year:

2015

Language:

english

File:

PDF, 59 KB

english, 2015

91

Consumption of cranberry functional beverage reduces gingival index and plaque index in patients with gingivitis

Woźniewicz, Małgorzata, Nowaczyk, Paulina M., Kurhańska-Flisykowska, Anna, Wyganowska-Swiatkowska, Marzena, Lasik-Kurdyś, Małgorzata, Walkowiak, Jarosław, Bajerska, Joanna

Journal:

Nutrition Research

Year:

2018

Language:

english

File:

PDF, 990 KB

english, 2018

92

The Role of the N-Terminal Domains of Bacterial Initiator DnaA in the Assembly and Regulation of the Bacterial Replication Initiation Complex

Zawilak-Pawlik, Anna, Nowaczyk, Małgorzata, Zakrzewska-Czerwińska, Jolanta

Journal:

Year:

2017

Language:

english

File:

PDF, 8.48 MB

english, 2017

93

Sodium citrate stabilized Ag NPs under thermal treatment, electron-beam and laser irradiations

Filipczak, Paulina, Borkowski, Michal, Chudobinski, Piotr, Bres, Szymon, Matusiak, Malgorzata, Nowaczyk, Grzegorz, Kozanecki, Marcin

Journal:

Radiation Physics and Chemistry

Year:

2018

Language:

english

File:

PDF, 1.25 MB

english, 2018

94

New Insight on Water Status in Germinating Brassica napus Seeds in Relation to Priming-Improved Germination

Lechowska, Katarzyna, Kubala, Szymon, Wojtyla, Łukasz, Nowaczyk, Grzegorz, Quinet, Muriel, Lutts, Stanley, Garnczarska, Małgorzata

Journal:

International Journal of Molecular Sciences

Year:

2019

File:

PDF, 4.12 MB

2019

95

The role of Helicobacter pylori DnaA domain I in orisome assembly on a bipartite origin of chromosome replication

Nowaczyk‐Cieszewska, Malgorzata, Zyla‐Uklejewicz, Dorota, Noszka, Mateusz, Jaworski, Pawel, Mielke, Thorsten, Zawilak‐Pawlik, Anna

Journal:

Molecular Microbiology

Year:

2019

Language:

english

File:

PDF, 20.61 MB

english, 2019

96

The role of Helicobacter pylori DnaA domain I in orisome assembly on a bipartite origin of chromosome replication

Nowaczyk‐Cieszewska, Malgorzata, Zyla‐Uklejewicz, Dorota, Noszka, Mateusz, Jaworski, Pawel, Mielke, Thorsten, Zawilak‐Pawlik, Anna

Journal:

Molecular Microbiology

Year:

2019

File:

PDF, 20.61 MB

2019