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1

De novo heterozygous missense and lossâofâfunction variants in CDC42BPB are associated with a neurodevelopmental phenotype

Chilton, Ilana, Okur, Volkan, Vitiello, Giuseppina, Selicorni, Angelo, Mariani, Milena, Goldenberg, Alice, Husson, Thomas, Campion, Dominique, Lichtenbelt, Klaske D., Gassen, Koen, Steinraths, Michell

Journal:

American Journal of Medical Genetics Part A

Year:

2020

File:

PDF, 1.95 MB

2020

2

Craniosynostosis associated with distal 5q-trisomy: Further evidence that extra copy of MSX2 gene leads to craniosynostosis

Jia-Chi Wang, Michelle Steinraths, Linda Dang, Brenda Lomax, Patrice Eydoux, Tracy Stockley, Siu-Li Yong, Margot I. Van Allen

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 200 KB

english, 2007

3

Steroid sulfatase deficiency and contiguous gene deletion syndrome amongst pregnant patients with low serum unconjugated estriols

Sylvie Langlois, Linlea Armstrong, Kim Gall, Gurdip Hulait, Janet Livingston, Tanya Nelson, Patricia Power, Denise Pugash, Dawn Siciliano, Michelle Steinraths, André Mattman

Journal:

Prenatal Diagnosis

Year:

2009

Language:

english

File:

PDF, 171 KB

english, 2009

4

Untersuchungen über die Beständigkeit komplexer Kobalt- und Chromsalze als Bodenkörper. II

A. Benrath, H. Steinrath

Journal:

Zeitschrift für anorganische und allgemeine Chemie

Year:

1930

Language:

german

File:

PDF, 395 KB

german, 1930

5

Primary Pulmonary Arterial Hypertension and Autoimmune Polyendocrine Syndrome in a Pediatric Patient

Mohammed H. Alghamdi, Michelle Steinraths, Constadina Panagiotopoulos, James E. Potts, George G. S. Sandor

Journal:

Pediatric Cardiology

Year:

2010

Language:

english

File:

PDF, 141 KB

english, 2010

6

High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44

Blake C. Ballif, Jill A. Rosenfeld, Ryan Traylor, Aaron Theisen, Patricia I. Bader, Roger L. Ladda, Susan L. Sell, Michelle Steinraths, Urvashi Surti, Marianne McGuire, Shelley Williams, Sandra A. Far

Journal:

Year:

2012

Language:

english

File:

PDF, 771 KB

english, 2012

7

CCMG guidelines: prenatal and postnatal diagnostic testing for uniparental disomy

AJ Dawson, J Chernos, J McGowan-Jordan, J Lavoie, S Shetty, M Steinraths, J-C Wang, J Xu

Journal:

Clinical Genetics

Year:

2011

Language:

english

File:

PDF, 522 KB

english, 2011

8

An Evaluation of a Bullying Prevention Program for Elementary Schools

Beran, T. N., Tutty, L., Steinrath, G.

Journal:

Canadian Journal of School Psychology

Year:

2004

Language:

english

File:

PDF, 889 KB

english, 2004

9

Incidental finding of paternal UPD15 in a child with a deletion of 11q21–q22.3, presenting with developmental delay, coloboma and characteristic dysmorphic features

Tucker, Tracy, Steinraths, Michelle, Oh, Tracey, Nelson, Tanya N., Van Allen, Margot I., Brown, Lindsay, Schlade-Bartusiak, Kamilla

Journal:

Clinical Dysmorphology

Year:

2016

Language:

english

File:

PDF, 447 KB

english, 2016

10

PRENATAL HEPATOSPLENOMEGALY WITH TRANSIENT MYELOPROLIFERATIVE DISORDER OF TRISOMY 21.

Steinraths, M., Pugash, D., Lim, K., Van Allen, M. I.

Journal:

Journal of Investigative Medicine

Year:

2004

File:

PDF, 1.01 MB

2004

11

Bone health and SATB2 -associated syndrome

Zarate, Yuri A., Steinraths, Michelle, Matthews, Allison, Smith, Wendy, Sun, Angela, Wilson, Louise C., Brain, Caroline, Allgove, Jeremy, Jacobs, Benjamin, Fish, Jennifer L., Powell, Cynthia M., Wasse

Journal:

Clinical Genetics

Year:

2017

Language:

english

File:

PDF, 1.36 MB

english, 2017

12

Genomic and Cytogenetic Characterization of a Balanced Translocation Disrupting NUP98

Thibodeau, My Linh, Steinraths, Michelle, Brown, Lindsay, Zong, Zheyuan, Shomer, Naomi, Taubert, Stefan, Mungall, Karen L., Ma, Yussanne P., Mueller, Rosemary, Birol, Inanc, Lehman, Anna

Journal:

Cytogenetic and Genome Research

Year:

2017

Language:

english

File:

PDF, 315 KB

english, 2017

13

Analysis of Newly Diagnosed Cases of Cystic Fibrosis

Steinraths, M, Vallance, HD, Davidson, AGF

Journal:

Paediatrics & child health

Year:

2002

Language:

english

File:

PDF, 48 KB

english, 2002

14

Recurrent sterile abscesses in a case of X-linked neutropenia

Biggs, Catherine M., Modi, Bhavi, Steinraths, Michelle, Del Bel, Kate, Pourshahnazari, Persia, Griffiths, Cameron, Forrest, David M., Prendiville, Julie, Dutz, Jan P., Turvey, Stuart E., Cameron, Scot

Journal:

Pediatric Dermatology

Year:

2020

Language:

english

File:

PDF, 478 KB

english, 2020