Keppen, Laura: search on Z-Library

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1

Jumonji domain containing 1C (JMJD1C) sequence variants in seven patients with autism spectrum disorder, intellectual disability and seizures

Slavotinek, Anne, van Hagen, Johanna M., Kalsner, Louisa, Pai, Shashidhar, Davis-Keppen, Laura, Ohden, Lisa, Weber, Yvonne G., Macke, Erica L., Klee, Eric W., Morava, Eva, Gunderson, Lauren, Person, R

Journal:

European Journal of Medical Genetics

Year:

2020

Language:

english

File:

PDF, 719 KB

english, 2020

2

Congenital nasal pyriform aperture stenosis and ocular albinism co-occurring in a sibship with a maternally-inherited 97 kb Xp22.2 microdeletion

Somsen, David, Davis-Keppen, Laura, Crotwell, Patricia, Flanagan, Jason, Munson, Patrick, Stein, Quinn

Journal:

American Journal of Medical Genetics Part A

Year:

2014

Language:

english

File:

PDF, 309 KB

english, 2014

3

Development of a newborn screening follow-up algorithm for the diagnosis of isobutyryl-CoA dehydrogenase deficiency

Oglesbee, Devin, He, Miao, Majumder, Nilanjana, Vockley, Jerry, Ahmad, Ayesha, Angle, Brad, Burton, Barbara, Charrow, Joel, Ensenauer, Regina, Ficicioglu, Can H, Keppen, Laura Davis, Marsden, Deborah,

Journal:

Genetics in Medicine

Year:

2007

Language:

english

File:

PDF, 658 KB

english, 2007

4

Keppen-Lubinsky Syndrome Is Caused by Mutations in the Inwardly Rectifying K+ Channel Encoded by KCNJ6

Masotti, Andrea, Uva, Paolo, Davis-Keppen, Laura, Basel-Vanagaite, Lina, Cohen, Lior, Pisaneschi, Elisa, Celluzzi, Antonella, Bencivenga, Paola, Fang, Mingyan, Tian, Mingyu, Xu, Xun, Cappa, Marco, Dal

Journal:

The American Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 933 KB

english, 2015

5

Nutritional Management of a Critically Ill Infant With Maple Syrup Urine Disease

Wiggins, Patricia A., Keppen, Laura

Journal:

Nutrition in Clinical Practice

Year:

1986

Language:

english

File:

PDF, 397 KB

english, 1986

6

Hypogonadotropic hypogonadism in mentally retarded adults with microphthalmia and clinical anophthalmia

Laura Davis Keppen, Michael C. Brodsky, Judith M. Michael, Ann R. Poindexter

Journal:

American Journal of Medical Genetics Part A

Year:

1990

Language:

english

File:

PDF, 332 KB

english, 1990

7

Anophthalmia in delleman syndrome

Michael C. Brodsky, Richard A. Harper, Laura Davis Keppen, Charles M. Glasier

Journal:

American Journal of Medical Genetics Part A

Year:

1990

Language:

english

File:

PDF, 158 KB

english, 1990

8

Ocular and Systemic Findings in the Aarskog (Facial-digital-genital) Syndrome

Brodsky, Michael C., Keppen, Laura Davis, Rice, Charles D., Ranells, Judith D.

Journal:

American Journal of Ophthalmology

Year:

1990

Language:

english

File:

PDF, 2.56 MB

english, 1990

9

Functional, histopathologic and natural history study of neuropathy associated withEGR2mutations

Kinga Szigeti, Wojciech Wiszniewski, Gulam Mustafa Saifi, Diane L. Sherman, Norbert Sule, Adekunle M. Adesina, Pedro Mancias, Sozos Ch. Papasozomenos, Geoffrey Miller, Laura Keppen, Donna Daentl, Pete

Journal:

Year:

2007

Language:

english

File:

PDF, 292 KB

english, 2007

10

Roberts syndrome with normal cell division

Laura Davis Keppen, Susanne M. Gollin, Joanna J. Seibert, Jesse E. Sisken

Journal:

American Journal of Medical Genetics Part A

Year:

1991

Language:

english

File:

PDF, 337 KB

english, 1991

11

HETEROGENEITY IN X-LINKED SPASTIC PARAPLEGIA

Keppen, Laura D, Leppert, Mark F, Lalouel, Jean-Marc, O'Connell, Peter, Nakamura, Yusuke, White, Ray L

Journal:

Pediatric Research

Year:

1987

Language:

english

File:

PDF, 159 KB

english, 1987

12

Prenatal diagnosis of a trisomy 17p derived from a de novo non-mosaic satellited marker

Anita S Kulharya, Jaime Garcia-Heras, Heather B Radtke, Karen S Norris, Laura D Keppen, David B Flannery

Journal:

Clinical Genetics

Year:

1998

Language:

english

File:

PDF, 801 KB

english, 1998

13

X-linked myotubular myopathy: intrafamilial variability and normal muscle biopsy in a heterozygous female

Laura Davis Keppen, Muhammad M. Husain, Robert C. Woody

Journal:

Clinical Genetics

Year:

1987

Language:

english

File:

PDF, 353 KB

english, 1987

14

1298 ZINC DEFICIENCY POTENTIATES ETHANOL EMBRYOPATHY

Keppen, Laura, Pysher, Theodore, Rennert, Owen M

Journal:

Pediatric Research

Year:

1985

Language:

english

File:

PDF, 169 KB

english, 1985

15

Treatment of Smith-Lemli-Opitz syndrome: Results of a multicenter trial

Irons, Mira, Elias, Ellen R., Abuelo, Diane, Bull, Marilyn J., Greene, Carol L., Johnson, Virginia P., Keppen, Laura, Schanen, Carolyn, Tint, G. Stephen, Salen, Gerald

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 169 KB

english, 1997

16

Prenatally diagnosed trisomy 20 mosaicism associated with arachnoid cyst of basal cistern

Quinn P. Stein, Jeffrey G. Boyle, Patricia L. Crotwell, Jason D. Flanagan, Kiley J. Johnson, Laura Davis-Keppen, Peter Van Eerden, Amelia R. Woltanski, William J. Watson

Journal:

Prenatal Diagnosis

Year:

2008

Language:

english

File:

PDF, 60 KB

english, 2008

17

An Exploration of Genetic Test Utilization, Genetic Counseling, and Consanguinity within the Inborn Errors of Metabolism Collaborative (IBEMC)

Stein, Quinn P., Vockley, Cate Walsh, Edick, Mathew J., Zhai, Shaohui, Hiner, Sally J., Loman, Rebecca S., Davis-Keppen, Laura, Zuck, Taylor A., Cameron, Cynthia A., Berry, Susan A.

Journal:

Journal of Genetic Counseling

Year:

2017

Language:

english

File:

PDF, 281 KB

english, 2017

18

Zinc Deficiency Acts as a Co-Teratogen with Alcohol in Fetal Alcohol Syndrome

Keppen, Laura Davis, Pysher, Theodore, Rennert, Owen M

Journal:

Pediatric Research

Year:

1985

Language:

english

File:

PDF, 437 KB

english, 1985

19

Letters to the Editor

Oesterheld, Jessica R., Keppen, Laura

Journal:

Journal of Developmental & Behavioral Pediatrics

Year:

1999

File:

PDF, 269 KB

1999

20

New syndrome of spondylospinal thoracic dysostosis with multiple pterygia and arthrogryposis

Johnson, Virginia P., Keppen, Laura D., Carpenter, Mary S., Randall, Brad B., Newby, Paul E.

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 385 KB

english, 1997

21

FISH detection of Wolf-Hirschhorn syndorem: Exclusion of D4F26 as critical site

Dr. Virginia P. Johnson, Michael R. Altherr, Jerome M. Blake, Laura D. Keppen

Journal:

American Journal of Medical Genetics Part A

Year:

1994

Language:

english

File:

PDF, 966 KB

english, 1994

22

Nutritional Management of a Critically Ill Infant With Maple Syrup Urine Disease

Wiggins, Patricia A., Keppen, Laura

Journal:

Nutrition in Clinical Practice

Year:

1986

File:

PDF, 397 KB

1986

23

Characterization of new ACADSB gene sequence mutations and clinical implications in patients with 2-methylbutyrylglycinuria identified by newborn screening

Jaffar Alfardan, Al-Walid Mohsen, Sara Copeland, Jay Ellison, Laura Keppen-Davis, Marianne Rohrbach, Berkley R. Powell, Jane Gillis, Dietrich Matern, Jeffrey Kant, Jerry Vockley

Journal:

Molecular Genetics and Metabolism

Year:

2010

Language:

english

File:

PDF, 573 KB

english, 2010

24

Confirmation of autosomal dominant transmission of the DiGeorge malformation complex

Laura Davis Keppen, James W. Fasules, A. Wesley Burks, Susanne M. Gollin, Jeffrey R. Sawyer, Connie H. Miller

Journal:

The Journal of Pediatrics

Year:

1988

Language:

english

File:

PDF, 1021 KB

english, 1988

25

Marshall–Smith syndrome: Natural history and evidence of an osteochondrodysplasia with connective tissue abnormalities

Margaret P. Adam, Raoul C.M. Hennekam, Laura Davis Keppen, Marilyn J. Bull, Carol L. Clericuzio, Leah W. Burke, Kelly E. Ormond, Eugene H. Hoyme

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 274 KB

english, 2005

26

Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies

Warner, Laura E., Mancias, Pedro, Butler, Ian J., McDonald, Craig M., Keppen, Laura, Koob, K. Gene, Lupski, James R.

Journal:

Nature Genetics

Year:

1998

File:

PDF, 387 KB

1998

27

Mutations in VLDLR associated with ataxia with secondary vitamin E deficiency

Kruer, Michael C., Jepperson, Tyler N., Weimer, Jill M., Mroch, Amy, Davis-Keppen, Laura, Crotwell, Patricia, Parboosingh, Jillian

Journal:

Movement Disorders

Year:

2013

Language:

english

File:

PDF, 252 KB

english, 2013

28

Silver-Russell syndrome with absence of digits and syndactylism of the fingers

Laura Davis Keppen, Owen M. Rennert

Journal:

Clinical Genetics

Year:

1983

Language:

english

File:

PDF, 254 KB

english, 1983

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