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1

Mutations in PHF6 are associated with Börjeson–Forssman–Lehmann syndrome

Lower, Karen M., Turner, Gillian, Kerr, Bronwyn A., Mathews, Katherine D., Shaw, Marie A., Gedeon, Ági K., Schelley, Susan, Hoyme, H. Eugene, White, Susan M., Delatycki, Martin B., Lampe, Anne K., Cla

Journal:

Nature Genetics

Year:

2002

Language:

english

File:

PDF, 229 KB

english, 2002

2

Simpson-Golabi-Behmel syndrome: Genotype/phenotype analysis of 18 affected males from 7 unrelated families

Hughes-Benzie, R.M., Pilia, G., Xuan, J.Y., Hunter, A.G.W., Chen, E., Golabi, M., Hurst, J.A., Kobori, J., Marymee, K., Pagon, R.A., Punnett, H.H., Schelley, S., Tolmie, J.L., Wohlferd, M.M., Grossman

Journal:

American Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 719 KB

english, 1996

3

Joint contractures, hyperkeratosis, and severe hypoplasia of the posterior columns: A new recessive syndrome

Kathreen Johnston, Ralph Aarons, Susan Schelley, Dikran Horoupian

Journal:

American Journal of Medical Genetics Part A

Year:

1993

Language:

english

File:

PDF, 406 KB

english, 1993

4

Developmental outcome in Kabuki syndrome

Keith K. Vaux, Kenneth L. Jones, Marilyn C. Jones, Susan Schelley, Louanne Hudgins

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 42 KB

english, 2005

5

Clinical features and management issues in Mowat–Wilson syndrome

Margaret P. Adam, Susan Schelley, Renata Gallagher, April N. Brady, Kimberly Barr, Bruce Blumberg, Joseph T.C. Shieh, John Graham, Anne Slavotinek, Madelena Martin, Kim Keppler-Noreuil, Andrea L. Stor

Journal:

American Journal of Medical Genetics Part A

Year:

2006

Language:

english

File:

PDF, 327 KB

english, 2006

6

The effect of misonidazole on the cytotoxicity and repair of potentially lethal damage from alkylating agents in vitro

Michael R. Horsman, J. Martin Brown, Susan L. Schelley

Journal:

International Journal of Radiation Oncology*Biology*Physics

Year:

1982

Language:

english

File:

PDF, 472 KB

english, 1982

7

Biamnial elevated alpha-fetoprotein and positive acetylcholinesterase in twins, one with anencephaly

Dr. R. Harold Holbrook Jr, Ann M. Krovoza, Susan Schelley, James E. Ferguson II

Journal:

Prenatal Diagnosis

Year:

1987

Language:

english

File:

PDF, 202 KB

english, 1987

8

The clinical picture of the Börjeson–Forssman–Lehmann syndrome in males and heterozygous females with PHF6 mutations

G Turner, KM Lower, SM White, M Delatycki, AK Lampe, M Wright, J Clayton- Smith, B Kerr, S Schelley, HE Hoyme, BBA De Vries, T Kleefstra, M Grompe, B Cox, J Gecz, M Partington

Journal:

Clinical Genetics

Year:

2004

Language:

english

File:

PDF, 1.42 MB

english, 2004

9

Relationship of primary mitochondrial respiratory chain dysfunction to fiber type abnormalities in skeletal muscle

GM Enns, CL Hoppel, SJ DeArmond, S Schelley, N Bass, K Weisiger, D Horoupian, S Packman

Journal:

Clinical Genetics

Year:

2005

Language:

english

File:

PDF, 1.07 MB

english, 2005

10

Clinical Utility of Array Comparative Genomic Hybridization: Uncovering Tumor Susceptibility in Individuals with Developmental Delay

Margaret P. Adam, April N. Justice, Susan Schelley, Andrea Kwan, Louanne Hudgins, Christa L. Martin

Journal:

The Journal of Pediatrics

Year:

2009

Language:

english

File:

PDF, 487 KB

english, 2009

11

Early Neonatal Diagnosis of Long-Chain 3-Hydroxyacyl Coenzyme A Dehydrogenase and Mitochondrial Trifunctional Protein Deficiencies

Susan R. Hintz, Dietrich Matern, Arnold Strauss, Michael J. Bennett, H.Eugene Hoyme, Susan Schelley, Joyce Kobori, Christopher Colby, Norman L. Lehman, Gregory M. Enns

Journal:

Molecular Genetics and Metabolism

Year:

2002

Language:

english

File:

PDF, 244 KB

english, 2002

12

Cardiac Explantation and Autotransplantation

Schelley Wagner, Bettyann Hutchisson, M. Ginny Baird

Journal:

Year:

1999

Language:

english

File:

PDF, 2.37 MB

english, 1999

13

Electrosurgical Safety

Bettyann Hutchisson, M. Ginny Baird, Schelley Wagner

Journal:

Year:

1998

Language:

english

File:

PDF, 1.76 MB

english, 1998

14

A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4)

Carol J Gallione, Gabriela M Repetto, Eric Legius, Anil K Rustgi, Susan L Schelley, Sabine Tejpar, Grant Mitchell, Éric Drouin, Cornelius JJ Westermann, Douglas A Marchuk

Journal:

Year:

2004

Language:

english

File:

PDF, 125 KB

english, 2004

15

Cerebro-costo-mandibular syndrome: A familial case consistent with autosomal recessive inheritance

Michael S. Trautman, Susan L. Schelley, David K. Stevenson

Journal:

The Journal of Pediatrics

Year:

1985

Language:

english

File:

PDF, 569 KB

english, 1985

16

Clinical whole-exome sequencing: are we there yet?

Atwal, Paldeep Singh, Brennan, Marie-Louise, Cox, Rachel, Niaki, Michael, Platt, Julia, Homeyer, Margaret, Kwan, Andrea, Parkin, Sylvie, Schelley, Susan, Slattery, Leah, Wilnai, Yael, Bernstein, Jonat

Journal:

Genetics in Medicine

Year:

2014

Language:

english

File:

PDF, 408 KB

english, 2014

17

OBITUARY OF THE WAR.

Atwal, P.S., Schelley, S., Enns, G.M.

Journal:

Year:

1916

Language:

english

File:

PDF, 699 KB

english, 1916

18

Mutations in the complex III assembly factor tetratricopeptide 19 gene TTC19 are a rare cause of Leigh syndrome

Atwal, P.S., Schelley, S., Enns, G.M.

Journal:

Year:

2013

Language:

english

File:

PDF, 49 KB

english, 2013

19

Increased body mass in infancy and early toddlerhood in Angelman syndrome patients with uniparental disomy and imprinting center defects

Brennan, Marie-Luise, Adam, Margaret P., Seaver, Laurie H., Myers, Angela, Schelley, Susan, Zadeh, Neda, Hudgins, Louanne, Bernstein, Jonathan A.

Journal:

American Journal of Medical Genetics Part A

Year:

2015

Language:

english

File:

PDF, 271 KB

english, 2015

20

Exome Sequencing for the Diagnosis of 46,XY Disorders of Sex Development

Baxter, Ruth M., Arboleda, Valerie A., Lee, Hane, Barseghyan, Hayk, Adam, Margaret P., Fechner, Patricia Y., Bargman, Renee, Keegan, Catherine, Travers, Sharon, Schelley, Susan, Hudgins, Louanne, Math

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

2015

Language:

english

File:

PDF, 97 KB

english, 2015

21

RTTN Mutations Cause Primary Microcephaly and Primordial Dwarfism in Humans

Shamseldin, Hanan, Alazami, Anas M., Manning, Melanie, Hashem, Amal, Caluseiu, Oana, Tabarki, Brahim, Esplin, Edward, Schelley, Susan, Innes, A. Micheil, Parboosingh, Jillian S., Lamont, Ryan, Majewsk

Journal:

The American Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 1.43 MB

english, 2015

22

IS THE VARIABLE CLINICAL PHENOTYPE ASSOCIATED WITH THE T8993G NARP (NEUROPATHY, ATAXIA, RETINITIS PIGMENTOSA) MITOCHONDRIAL DNA MUTATION SOLELY A FUNCTION OF DEGREE OF HETEROPLASMY?

Beck, A. E., Bai, R.-K., Wong, L.-J.C., Schelley, S., Barsh, G. S., Enns, G. M.

Journal:

Journal of Investigative Medicine

Year:

2004

File:

PDF, 1.99 MB

2004

23

Pathogenic variants inHTRA2cause an early-onset mitochondrial syndrome associated with 3-methylglutaconic aciduria

Oláhová, Monika, Thompson, Kyle, Hardy, Steven A., Barbosa, Inês A., Besse, Arnaud, Anagnostou, Maria-Eleni, White, Kathryn, Davey, Tracey, Simpson, Michael A., Champion, Michael, Enns, Greg, Schelley

Journal:

Journal of Inherited Metabolic Disease

Year:

2017

Language:

english

File:

PDF, 2.30 MB

english, 2017

24

[American Institute of Aeronautics and Astronautics 55th AIAA Aerospace Sciences Meeting - Grapevine, Texas ()] 55th AIAA Aerospace Sciences Meeting - Instrument for In-Flight Boundary Layer Rake Measurements

Westphal, Russell V., Schelley, Rachael, Frame, Donald

Language:

english

File:

PDF, 448 KB

english

25

312 IS THE VARIABLE CLINICAL PHENOTYPE ASSOCIATED WITH THE T8993G NARP (NEUROPATHY, ATAXIA, RETINITIS PIGMENTOSA) MITOCHONDRIAL DNA MUTATION SOLELY A FUNCTION OF DEGREE OF HETEROPLASMY?

Beck, A. E., Bai, R.-K., Wong, L.-J.C., Schelley, S., Barsh, G. S., Enns, G. M.

Journal:

Journal of Investigative Medicine

Year:

2004

File:

PDF, 2.03 MB

2004

26

An MTF1 binding site disrupted by a homozygous variant in the promoter of ATP7B likely causes Wilson Disease

Chen, Heidi I., Jagadeesh, Karthik A., Birgmeier, Johannes, Wenger, Aaron M., Guturu, Harendra, Schelley, Susan, Bernstein, Jonathan A., Bejerano, Gill

Journal:

European Journal of Human Genetics

Year:

2018

Language:

english

File:

PDF, 972 KB

english, 2018