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1

Leigh disease caused by the mitochondrial DNA G14459A mutation in unrelated families

Denise M. Kirby, Stephen G. Kahler, Mary-Louise Freckmann, Dinah Reddihough, David R. Thorburn

Journal:

Annals of Neurology

Year:

2000

Language:

english

File:

PDF, 3.51 MB

english, 2000

2

The Effect of Mitochondrial Supplements on Mitochondrial Activity in Children with Autism Spectrum Disorder

Delhey, Leanna, Nur Kilinc, Ekim, Yin, Li, Slattery, John, Tippett, Marie, Rose, Shannon, Bennuri, Sirish, Kahler, Stephen, Damle, Shirish, Legido, Agustin, Goldenthal, Michael, Frye, Richard

Journal:

Journal of Clinical Medicine

Year:

2017

Language:

english

File:

PDF, 833 KB

english, 2017

3

Approaches to studying and manipulating the enteric microbiome to improve autism symptoms

Frye, Richard E., Slattery, John, MacFabe, Derrick F., Allen-Vercoe, Emma, Parker, William, Rodakis, John, Adams, James B., Krajmalnik-Brown, Rosa, Bolte, Ellen, Kahler, Stephen, Jennings, Jana, James

Journal:

Microbial Ecology in Health & Disease

Year:

2015

Language:

english

File:

PDF, 685 KB

english, 2015

4

Native American myopathy: Congenital myopathy with cleft palate, skeletal anomalies, and susceptibility to malignant hyperthermia

Demetra S. Stamm, Arthur S. Aylsworth, Jeffrey M. Stajich, Stephen G. Kahler, Leigh B. Thorne, Marcy C. Speer, Cynthia M. Powell

Journal:

American Journal of Medical Genetics Part A

Year:

2008

Language:

english

File:

PDF, 325 KB

english, 2008

5

Lactic acidemia, neurologic deterioration and carbohydrate dependence in a girl with dihydrolipoyl dehydrogenase deficiency

Brian H. Robinson, Jennifer Taylor, Stephen G. Kahler, Henry N. Kirkman

Journal:

European Journal of Pediatrics

Year:

1981

Language:

english

File:

PDF, 536 KB

english, 1981

6

Metabolic Imbalance Associated with Methylation Dysregulation and Oxidative Damage in Children with Autism

Stepan Melnyk, George J. Fuchs, Eldon Schulz, Maya Lopez, Stephen G. Kahler, Jill J. Fussell, Jayne Bellando, Oleksandra Pavliv, Shannon Rose, Lisa Seidel, David W. Gaylor, S. Jill James

Journal:

Journal of Autism and Developmental Disorders

Year:

2012

Language:

english

File:

PDF, 370 KB

english, 2012

7

Eating behavior in obese BED, obese non-BED, and non-obese control participants: A naturalistic study

Scott G. Engel, Kirsten A. Kahler, Chad M. Lystad, Ross D. Crosby, Heather K. Simonich, Stephen A. Wonderlich, Carol B. Peterson, James E. Mitchell

Journal:

Behaviour Research and Therapy

Year:

2009

Language:

english

File:

PDF, 107 KB

english, 2009

8

Atlas of Clinical Syndromes: A Visual Aid to Diagnosis for Clinicians and Practicing Physicians

Kahler, Stephen G.

Journal:

JAMA The Journal of the American Medical Association

Year:

1993

Language:

english

File:

PDF, 206 KB

english, 1993

9

Butyrate enhances mitochondrial function during oxidative stress in cell lines from boys with autism

Rose, Shannon, Bennuri, Sirish C., Davis, Jakeira E., Wynne, Rebecca, Slattery, John C., Tippett, Marie, Delhey, Leanna, Melnyk, Stephan, Kahler, Stephen G., MacFabe, Derrick F., Frye, Richard E.

Journal:

Translational Psychiatry

Year:

2018

Language:

english

File:

PDF, 2.22 MB

english, 2018

10

Level of residual enzyme activity modulates the phenotype in phosphoglycerate kinase deficiency

Vissing, John, Akman, H. Orhan, Aasly, Jan, Kahler, Stephen G., Bacino, Carlos A., DiMauro, Salvatore, Haller, Ronald G.

Journal:

Year:

2018

Language:

english

File:

PDF, 316 KB

english, 2018

11

Diagnosis and management of glycogen storage diseases type VI and IX: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)

Kishnani, Priya S., Goldstein, Jennifer, Austin, Stephanie L., Arn, Pamela, Bachrach, Bert, Bali, Deeksha S., Chung, Wendy K., El-Gharbawy, Areeg, Brown, Laurie M., Kahler, Stephen, Pendyal, Surekha,

Journal:

Genetics in Medicine

Year:

2019

Language:

english

File:

PDF, 749 KB

english, 2019

12

Inheritance of HLA-Cw7 Associated With Autism Spectrum Disorder (ASD)

Harville, Terry, Rhodes-Clark, Bobbie, Bennuri, Sirish C., Delhey, Leanna, Slattery, John, Tippett, Marie, Wynne, Rebecca, Rose, Shannon, Kahler, Stephen, Frye, Richard E.

Journal:

Frontiers in Psychiatry

Year:

2019

Language:

english

File:

PDF, 1.08 MB

english, 2019

13

A mild autosomal recessive form of osteopetrosis

Dr. Stephen G. Kahler, Jane A. Burns, Arthur S. Aylsworth, John M. Opitz

Journal:

American Journal of Medical Genetics Part A

Year:

1984

Language:

english

File:

PDF, 916 KB

english, 1984

14

Unbalanced translocation 46,xy,−15,+der(22)t(15;22)(q13;q11)pat: Case report and review of the literature

Johan L. K. Van Hove, Allyn McConkie-Rosell, Yuan-Tsong Chen, A. Kimberly Iafolla, Joseph T. Lanman Jr., Mark D. Hennessy, Stephen G. Kahler

Journal:

American Journal of Medical Genetics Part A

Year:

1992

Language:

english

File:

PDF, 651 KB

english, 1992

15

Fetal biometry in the Brachmann-de Lange syndrome

Mark A. Kliewer, Stephen G. Kahler, Barbara S. Hertzberg, James D. Bowie

Journal:

American Journal of Medical Genetics Part A

Year:

1993

Language:

english

File:

PDF, 716 KB

english, 1993

16

von Voss-Cherstvoy syndrome: A variable perinatally lethal syndrome of multiple congenital anomalies

Mark S. Lubinsky, Stephen G. Kahler, Isabell E. Speer, H. Eugene Hoyme, Irena A. Kirillova, I. W. Lurie

Journal:

American Journal of Medical Genetics Part A

Year:

1994

Language:

english

File:

PDF, 820 KB

english, 1994

17

Hemangioma, supraumbilical midline raphé, and coarctation of the aorta with a right aortic arch: Single causal entity?

Priya Kishnani, A. Kimberly Iafolla, Allyn McConkie-Rosell, Johan L. K. Van Hove, Ronald J. Kanter, Stephen G. Kahler

Journal:

American Journal of Medical Genetics Part A

Year:

1995

Language:

english

File:

PDF, 624 KB

english, 1995

18

Fryns syndrome survivors and neurologic outcome

Johan L. K. Van Hove, Gail A. Spiridigliozzi, Ralph Heinz, Allyn McConkie-Rosell, A. Kimberly Iafolla, Stephen G. Kahler

Journal:

American Journal of Medical Genetics Part A

Year:

1995

Language:

english

File:

PDF, 756 KB

english, 1995

19

Benzoate therapy and carnitine deficiency in non-ketotic hyperglycinemia

Dr. Johan L. K. Van Hove, Priya Kishnani, Joseph Muenzer, Richard J. Wenstrup, Marshall L. Summar, Michael R. Brummond, Ave M. Lachiewicz, David S. Millington, Stephen G. Kahler

Journal:

American Journal of Medical Genetics Part A

Year:

1995

Language:

english

File:

PDF, 1.03 MB

english, 1995

20

Confirmation of locus heterogeneity in the pure form of familial spastic paraplegia

Marcy C. Speer, Helen M. Kingston, Rose-Mary N. Boustany, Peter C. Gaskell, L. Christi Robinson, Felicia Lennon, Chantelle M. Wolpert, Larry H. Yamaoka, Stephen G. Kahler, Edward L. Hogan, W. J. K. Cu

Journal:

American Journal of Medical Genetics Part A

Year:

1995

Language:

english

File:

PDF, 482 KB

english, 1995

21

A novel MGP mutation in a consanguineous family: Review of the clinical and molecular characteristics of Keutel syndrome

David J. Hur, Gerald V. Raymond, Stephen G. Kahler, Douglas L. Riegert-Johnson, Bernard A. Cohen, Simeon A. Boyadjiev

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 202 KB

english, 2005

22

Metabolic disorders and mental retardation

Stephen G. Kahler, Michael C. Fahey

Journal:

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

Year:

2003

Language:

english

File:

PDF, 139 KB

english, 2003

23

Molecular studies in mutase-deficient (MUT) methylmalonic aciduria: identification of five novel mutations

Heidi L. Peters, Mikhael Nefedov, Lai Wah Lee, Jose E. Abdenur, Nestor A. Chamoles, Stephen G. Kahler, Panayiotis A. Ioannou

Journal:

Year:

2002

Language:

english

File:

PDF, 31 KB

english, 2002

24

The lipooligosaccharide (LOS) of Neisseria meningitidis Serogroup B Strain NMB contains L2, L3, and novel oligosaccharides, and lacks the lipid-A 4′-phosphate substituent

M. Mahbubur Rahman, David S. Stephens, Charlene M. Kahler, John Glushka, Russell W. Carlson

Journal:

Carbohydrate Research

Year:

1998

Language:

english

File:

PDF, 307 KB

english, 1998

25

Multiple lysophosphatidic acid acyltransferases in Neisseria meningitidis

Giles C. Shih, Charlene M. Kahler, John S. Swartley, M. Mahbubur Rahman, Jack Coleman, Russell W. Carlson, David S. Stephens

Journal:

Molecular Microbiology

Year:

1999

Language:

english

File:

PDF, 407 KB

english, 1999

26

Neural tube defects in trisomy 18

David B. Flannery, Stephen G. Kahler

Journal:

Prenatal Diagnosis

Year:

1986

Language:

english

File:

PDF, 180 KB

english, 1986

27

The solar particle event of July 16–19, 1966 and its possible association with a flare on the invisible solar hemisphere

Helen W. Dodson, E. Ruth Hedeman, Stephen W. Kahler, Robert P. Lin

Journal:

Year:

1969

Language:

english

File:

PDF, 549 KB

english, 1969

28

Reply to discussion by Lanzerotti

Stephen W. Kahler

Journal:

Year:

1970

Language:

english

File:

PDF, 141 KB

english, 1970

29

The structure of the L9 immunotype lipooligosaccharide from Neisseria meningitidis NMA Z2491

Biswa Choudhury, Charlene M. Kahler, Anup Datta, David S. Stephens, Russell W. Carlson

Journal:

Carbohydrate Research

Year:

2008

Language:

english

File:

PDF, 721 KB

english, 2008

30

Development of the US PSORIQoL: a psoriasis-specific measure of quality of life

Stephen P. McKenna, Mark Lebwohl, Kristijan N. Kahler

Journal:

International Journal of Dermatology

Year:

2005

Language:

english

File:

PDF, 115 KB

english, 2005

31

The Development of the Herpes Symptom Checklist and the Herpes Outbreak Impact Questionnaire

Lynda C. Doward, Stephen P. McKenna, David M. Meads, Kristijan Kahler, Feride Frech

Journal:

Value in Health

Year:

2009

Language:

english

File:

PDF, 577 KB

english, 2009

32

Parents' Experiences with Genetic Counseling After the Birth of a Baby with a Genetic Disorder: An Exploratory Study

Veronica Collins, Jane Halliday, Stephen Kahler, Robert Williamson

Journal:

Journal of Genetic Counseling

Year:

2001

Language:

english

File:

PDF, 66 KB

english, 2001

33

Characterization of six novel patients with MECP2 duplications due to unbalanced rearrangements of the X chromosome

Jennifer N. Sanmann, Danielle L. Bishay, Lois J. Starr, Carla A. Bell, Diane L. Pickering, Jadd M. Stevens, Stephen G. Kahler, Ann Haskins Olney, G. Bradley Schaefer, Warren G. Sanger

Journal:

American Journal of Medical Genetics Part A

Year:

2012

Language:

english

File:

PDF, 147 KB

english, 2012

34

Öle

R. T. Sheen, L. Kahlèr, R. G. Larsen, E. P. Kohler, N. K. Richtmyer, K. S. Gibson, E. S. L. Beale, R. N. Evans, J. E. Davenport, A. B. Ralston, E. J. Hoffman, E. S. Stephens, M. Blagodarov

Journal:

Analytical and Bioanalytical Chemistry

Year:

1939-1940

Language:

german

File:

PDF, 375 KB

german, 1939-1940

35

Cigarette smoking and the lifetime alcohol involvement continuum

Christopher W. Kahler, David R. Strong, George D. Papandonatos, Suzanne M. Colby, Melissa A. Clark, Julie Boergers, Raymond Niaura, David B. Abrams, Stephen L. Buka

Journal:

Drug and Alcohol Dependence

Year:

2008

Language:

english

File:

PDF, 265 KB

english, 2008

36

Regulation of hormonally mediated maternal nest structure in the mouse (Mus musculus) as a function of neonatal hormone manipulation

Robert D. Lisk, James A. Russell, Stephen G. Kahler, John B. Hanks

Journal:

Animal Behaviour

Year:

1973

Language:

english

File:

PDF, 529 KB

english, 1973

37

Reply

Stephen G. Kahler

Journal:

The Journal of Pediatrics

Year:

1990

Language:

english

File:

PDF, 107 KB

english, 1990

38

Low plasma citrulline concentrations during protein restriction in an unaffected infant at risk for ornithine transcarbamylase deficiency

A. Kimberly Iafolla, Stephen G. Kahler, Y.T. Chen

Journal:

The Journal of Pediatrics

Year:

1992

Language:

english

File:

PDF, 198 KB

english, 1992

39

Pancreatitis in patients with organic acidemias

Stephen G. Kahler, W.Geoffrey Sherwood, David Woolf, Stephen T. Lawless, Arno Zaritsky, James Bonham, C.J. Taylor, Joe T.R. Clarke, Peter Durie, James V. Leonard

Journal:

The Journal of Pediatrics

Year:

1994

Language:

english

File:

PDF, 690 KB

english, 1994

40

Endoscopic retrieval of severed flexor tendons

KaMing Li, Dennis R. Banducci, Stephen H. Kahler, Randy M. Hauck, Donald R. Mackay, Ernest K. Manders

Journal:

The Journal of Hand Surgery: British & European Volume

Year:

1995

Language:

english

File:

PDF, 1.06 MB

english, 1995

41

Sensibility of finger fillet flaps on late follow-up evaluation

Andrea M. Koegel, Dennis R. Banducci, Stephen H. Kahler, Randy M. Hauck, Ernest K. Manders

Journal:

The Journal of Hand Surgery: British & European Volume

Year:

1995

Language:

english

File:

PDF, 231 KB

english, 1995

42

Hepatic storage of glycogen in Niemann-Pick disease type B

Wendy E. Smith, Stephen G. Kahler, Donald P. Frush, David E. Milov, Marcia R. Gottfried, Yuan-Tsong Chen

Journal:

The Journal of Pediatrics

Year:

2001

Language:

english

File:

PDF, 86 KB

english, 2001

43

Neisserial lipooligosaccharide and complement activation: Contrasting effects of heptose II substitutions in gonococci and meningococci

Lisa A. Lewis, Andrew Cox, Charlene M. Kahler, David S. Stephens, Sanjay Ram, Peter A. Rice

Journal:

Molecular Immunology

Year:

2007

Language:

english

File:

PDF, 77 KB

english, 2007

44

A transdisciplinary approach to protocol development for tobacco control research: a case study

Melissa A. Clark PhD, Michelle L. Rogers PhD, Julie Boergers PhD, Christopher W. Kahler PhD, Susan Ramsey PhD, Frances M. Saadeh MPH, David B. Abrams PhD, Stephen L. Buka ScD, Raymond Niaura PhD, Suza

Journal:

Translational Behavioral Medicine

Year:

2012

Language:

english

File:

PDF, 279 KB

english, 2012

45

Presenting features and clinical outcomes for children with metabolic cardiomyopathies

Alan Nugent, Piers Daubeney, Stephen Kahler, Patty Chondros, John Carlin, Robert Weintraub

Journal:

Heart Lung & Circulation

Year:

2003

Language:

english

File:

PDF, 148 KB

english, 2003

46

Increased incidence of dilated cardiomyopathy among aboriginal Australian children

Alan Nugent, Piers Daubeney, Patty Chondros, Stephen Kahler, John Carlin, Robert Weintraub

Journal:

Heart Lung & Circulation

Year:

2003

Language:

english

File:

PDF, 148 KB

english, 2003

47

Parenteral nutrition in propionic and methylmalonic acidemia

Stephen G. Kahler, David S. Millington, Stephen D. Cederbaum, Jorge Vargas, Laurel D. Bond, David A. Maltby, Diane S. Gale, Charles R. Roe

Journal:

The Journal of Pediatrics

Year:

1989

Language:

english

File:

PDF, 597 KB

english, 1989

48

Reply

Stephen G. Kahler, A. Kimberly Iafolla

Journal:

The Journal of Pediatrics

Year:

1989

Language:

english

File:

PDF, 82 KB

english, 1989

49

Presenting features and clinical outcomes for children with metabolic cardiomyopathies

Piers E. Daubeney, Alan Nugent, Patty Chondros, Stephen Kahler, John Carlin, Robert G. Weintraub

Journal:

Journal of the American College of Cardiology

Year:

2002

Language:

english

File:

PDF, 136 KB

english, 2002

50

Letter to the Editors

Stephen G. Kahler, Elizabeth Riley

Journal:

Clinical Genetics

Year:

1979

Language:

english

File:

PDF, 80 KB

english, 1979