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1

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

Anita Rauch, Dagmar Wieczorek, Elisabeth Graf, Thomas Wieland, Sabine Endele, Thomas Schwarzmayr, Beate Albrecht, Deborah Bartholdi, Jasmin Beygo, Nataliya Di Donato, Andreas Dufke, Kirsten Cremer, Ma

Journal:

Year:

2012

Language:

english

File:

PDF, 249 KB

english, 2012

2

“Thrust Into Adulthood”: Transition Experiences of Young Adults with Cerebral Palsy

Bagatell, Nancy, Chan, Dara, Rauch, Kimberly Karrat, Thorpe, Deborah

Journal:

Disability and Health Journal

Year:

2016

Language:

english

File:

PDF, 497 KB

english, 2016

3

Nonlinear Geometric Optics for Short Pulses

Deborah Alterman, Jeffrey Rauch

Journal:

Journal of Differential Equations

Year:

2002

Language:

english

File:

PDF, 214 KB

english, 2002

4

Diffractive short pulse asymptotics for nonlinear wave equations

Deborah Alterman, Jeffrey Rauch

Journal:

Physics Letters A

Year:

2000

Language:

english

File:

PDF, 147 KB

english, 2000

5

Differences in cerebral activation during smooth pursuit and saccadic eye movements using positron-emission tomography

Gillian A O’Driscoll, Stephen M Strakowski, Nathaniel M Alpert, Steven W Matthysse, Scott L Rauch, Deborah L Levy, Philip S Holzman

Journal:

Biological Psychiatry

Year:

1998

Language:

english

File:

PDF, 38 KB

english, 1998

6

Further delineation of genotype-phenotype correlation in homozygous 2p21 deletion syndromes: First description of patients without cystinuria

Bartholdi, Deborah, Asadollahi, Reza, Oneda, Beatrice, Schmitt-Mechelke, Thomas, Tonella, Paolo, Baumer, Alessandra, Rauch, Anita

Journal:

American Journal of Medical Genetics Part A

Year:

2013

Language:

english

File:

PDF, 344 KB

english, 2013

7

Subtilisin BPN‘ Variants: Increased Hydrolytic Activity on Surface-Bound Substrates via Decreased Surface Activity

Brode, Philip F., Erwin, Christopher R., Rauch, Deborah S., Barnett, Bobby L., Armpriester, James M., Wang, Ellen S. F., Rubingh, Donn N.

Journal:

Year:

1996

Language:

english

File:

PDF, 393 KB

english, 1996

8

A newly recognized 13q12.3 microdeletion syndrome characterized by intellectual disability, microcephaly, and eczema/atopic dermatitis encompassing the HMGB1 and KATNAL1 genes

Bartholdi, Deborah, Stray-Pedersen, Asbjørg, Azzarello-Burri, Silvia, Kibaek, Maria, Kirchhoff, Maria, Oneda, Beatrice, Rødningen, Olaug, Schmitt-Mechelke, Thomas, Rauch, Anita, Kjaergaard, Susanne

Journal:

American Journal of Medical Genetics Part A

Year:

2014

Language:

english

File:

PDF, 1013 KB

english, 2014

9

Seasonally-related physiological and behavioural changes in captive Richardson's ground squirrels (Spermophilus richardsoni)

Harding, Deborah H., Rauch, Josefine C.

Journal:

Comparative Biochemistry and Physiology Part A: Physiology

Year:

1983

Language:

english

File:

PDF, 445 KB

english, 1983

10

Fracture Prediction and the Definition of Osteoporosis in Children and Adolescents: The ISCD 2007 Pediatric Official Positions

Rauch, Frank, Plotkin, Horacio, DiMeglio, Linda, Engelbert, Raoul H., Henderson, Richard C., Munns, Craig, Wenkert, Deborah, Zeitler, Philip

Journal:

Journal of Clinical Densitometry

Year:

2008

Language:

english

File:

PDF, 137 KB

english, 2008

11

Protease Activity on an Immobilized Substrate Modified by Polymers: Subtilisin BPN‘

Esker, Alan R., Brode, Philip F., Rubingh, Donn N., Rauch, Deborah S., Yu, Hyuk, Gast, Alice P., Robertson, Channing R., Trigiante, Giuseppe

Journal:

Year:

2000

Language:

english

File:

PDF, 291 KB

english, 2000

12

Comparison of body weights between captive and free-ranging juvenile Richardson's ground squirrels ( Spermophilus richardsoni )

Harding, Deborah H., Rauch, Josefine C.

Journal:

Canadian Journal of Zoology

Year:

1981

Language:

english

File:

PDF, 617 KB

english, 1981

13

Diffractive Nonlinear Geometric Optics for Short Pulses

Alterman, Deborah, Rauch, Jeffrey

Journal:

SIAM Journal on Mathematical Analysis

Year:

2003

Language:

english

File:

PDF, 297 KB

english, 2003

14

N8-acetylspermidine as a potential plasma biomarker for Snyder-Robinson syndrome identified by clinical metabolomics

Abela, Lucia, Simmons, Luke, Steindl, Katharina, Schmitt, Bernhard, Mastrangelo, Massimo, Joset, Pascal, Papuc, Mihaela, Sticht, Heinrich, Baumer, Alessandra, Crowther, Lisa M., Mathis, Déborah, Rauch

Journal:

Journal of Inherited Metabolic Disease

Year:

2016

Language:

english

File:

PDF, 518 KB

english, 2016

15

Functional Neuroanatomy of Antisaccade Eye Movements Investigated with Positron Emission Tomography

Gillian A. O'Driscoll, Nathaniel M. Alpert, Steven W. Matthysse, Deborah L. Levy, Scott L. Rauch and Philip S. Holzman

Journal:

Proceedings of the National Academy of Sciences

Year:

1995

Language:

english

File:

PDF, 875 KB

english, 1995

16

SPIE Proceedings [SPIE Intl Conf on Fourier and Computerized Infrared Spectroscopy - Fairfax, VA (Monday 19 June 1989)] 7th Intl Conf on Fourier Transform Spectroscopy - Infrared Analysis Of Enzymes Adsorbed Onto Model Surfaces

Story, Gloria M., Rauch, Deborah S., Brode III, Philip F., Marcott, Curtis, Cameron, David G.

Year:

1989

Language:

english

File:

PDF, 71 KB

english, 1989

17

The value of plasma vitamin B6profiles in early onset epileptic encephalopathies

Mathis, Déborah, Abela, Lucia, Albersen, Monique, Bürer, Céline, Crowther, Lisa, Beese, Karin, Hartmann, Hans, Bok, Levinus A., Struys, Eduard, Papuc, Sorina M., Rauch, Anita, Hersberger, Martin, Verh

Journal:

Journal of Inherited Metabolic Disease

Year:

2016

Language:

english

File:

PDF, 754 KB

english, 2016

18

Adherence to Guidelines for Antiretroviral Therapy and for Preventing Opportunistic Infections in HIV-Infected Adults and Adolescents in Ryan White–Funded Facilities in the United States

Kaplan, Jonathan E., Parham, Deborah L., Soto-Torres, Lydia, van Dyck, Karen, Greaves, Jo Anne, Rauch, Kathy, Ellis, Bruce, Amandus, Harlan E.

Journal:

JAIDS Journal of Acquired Immune Deficiency Syndromes

Year:

1999

File:

PDF, 4.93 MB

1999