M. Szybowska

发表

Reappraisal of Reported Genes for Sudden Arrhythmic Death

Michael J. Ackerman, Seema M Jamal, Gregory Costain, 2018, Circulation.

Exome and genome sequencing in adults with undiagnosed disease: a prospective cohort study

A. Noor, Y. Bombard, S. Horsburgh, 2020, Journal of Medical Genetics.

Mutations That Alter the Carboxy-Terminal-Propeptide Cleavage Site of the Chains of Type I Procollagen Are Associated With a Unique Osteogenesis Imperfecta Phenotype

P. Byers, E. Duncan, M. Szybowska, 2018, Yearbook of Paediatric Endocrinology.

Genotype and phenotype in 12 additional individuals with SATB2‐associated syndrome

E. Zackai, J. Fish, R. Person, 2017, Clinical genetics.

Genotype and Phenotype in 12 additional individuals with SATB 2-Associated Syndrome

E. Zackai, J. Fish, R. Person, 2017 .

Role of signal transducer and activator of transcription 3 (STAT3) in stretch injury to bladder smooth muscle cells

S. Halachmi, M. Szybowska, A. Lorenzo, 2006, Cell and Tissue Research.

Mosaicism of the UDP-galactose transporter SLC35A2 causes a congenital disorder of glycosylation.

Emily H Turner, J. Shendure, D. Nickerson, 2013, American journal of human genetics.

Adult patient perspectives on phenylketonuria care: Highlighting the need for dedicated adult management and services.

M. Szybowska, J. So, H. Bell, 2019, European journal of medical genetics.

The duplication 17p13.3 phenotype: Analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes

Stephanie E. Vallee, J. Rosenfeld, R. Tervo, 2013, American journal of medical genetics. Part A.

Matrix metalloproteinase-7 and epidermal growth factor receptor mediate hypoxia-induced extracellular signal-regulated kinase 1/2 mitogen-activated protein kinase activation and subsequent proliferation in bladder smooth muscle cells

M. Szybowska, D. Bägli, A. Lorenzo, 2006, In Vitro Cellular & Developmental Biology - Animal.

Neuroendocrine Neoplasms Associated with Germline Pathogenic Variants in the Homologous Recombination Pathway

M. Szybowska, J. Silver, O. Mete, 2019, Endocrine Pathology.

Natural history and genotype‐phenotype correlations in 72 individuals with SATB2‐associated syndrome

Joseph W Ray, Anne M Slavotinek, Elaine Zackai, 2018, American journal of medical genetics. Part A.

De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism.

C. Cytrynbaum, R. Weksberg, R. Kingston, 2020, American journal of human genetics.

Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling

L. Lagae, A. Vanderver, J. Tolmie, 2014, Nature Genetics.

Novel features of Helsmoortel–Van der Aa/ADNP syndrome in a boy with a known pathogenic mutation in the ADNP gene detected by exome sequencing

M. Szybowska, Chumei Li, Yongdong Wang, 2017, American journal of medical genetics. Part A.

Mechanotransduction of extracellular signal-regulated kinases 1 and 2 mitogen-activated protein kinase activity in smooth muscle is dependent on the extracellular matrix and regulated by matrix metalloproteinases.

M. Szybowska, D. Bägli, A. Lorenzo, 2006, The American journal of pathology.

Intrathyroidal Parathyroid Carcinoma: An Atypical Thyroid Lesion

S. Asa, S. Ezzat, R. Kim, 2018, Front. Endocrinol..

Macrocephaly, growth failure, translucent skin, renal cysts, coarctation of the aorta, and cholestasis: novel features of a new syndrome - the del17q12 syndrome.

M. Szybowska, Chumei Li, 2009, Clinical dysmorphology.

A novel mutation c.4003 G>C in the CREBBP gene in an adult female with Rubinstein–Taybi syndrome presenting with subtle dysmorphic features

M. Szybowska, Chumei Li, 2010, American journal of medical genetics. Part A.

Mutations That Alter the Carboxy‐Terminal‐Propeptide Cleavage Site of the Chains of Type I Procollagen Are Associated With a Unique Osteogenesis Imperfecta Phenotype

P. Byers, E. Duncan, M. Szybowska, 2018, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Assessing the Informational Needs of Adolescents with a Genetic Condition: What Do They Want to Know?

M. Szybowska, R. Babul‐Hirji, S. Hewson, 2007, Journal of Genetic Counseling.

Comprehensive characterization of a Canadian cohort of von Hippel‐Lindau disease patients

S. Asa, S. Ezzat, G. Zadeh, 2019, Clinical genetics.

Carbachol injections into the intergeniculate leaflet induce nonphotic phase shifts

J. Yeomans, M. Szybowska, M. Ralph, 2007, Brain Research.

Germline whole genome sequencing in adults with multiple primary tumors

Trevor J Pugh, T. Pugh, R. Kim, 2023, Familial Cancer.