Powell, Berkley R: search on Z-Library

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1

Characterization of the Ocular Phenotype of Duchenne and Becker Muscular Dystrophy

Sigesmund, Dayle A., Weleber, Richard G., Pillers, De-Ann M., Westall, Carol A., Panton, Carole M., Powell, Berkley R., Héon, Elise, Murphey, William H., Musarella, Maria A., Ray, Peter N.

Journal:

Year:

1994

Language:

english

File:

PDF, 2.56 MB

english, 1994

2

Åland Island eye disease (Forsius-Eriksson ocular albinism) and an Xp21 deletion in a patient with duchenne muscular dystrophy, glycerol kinase deficiency, and congenital adrenal hypoplasia

De-Ann M. Pillers, Richard G. Weleber, Berkley R. Powell, Cheryl E. Hanna, R. Ellen Magenis, Neil R. M. Buist

Journal:

American Journal of Medical Genetics Part A

Year:

1990

Language:

english

File:

PDF, 582 KB

english, 1990

3

Small supernumerary ring X chromosome in a four-month-old girl

Huang, Bing, Lamb, Allen, Dorian, Armand, Brumblay, Janet, Powell, Berkley

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 87 KB

english, 1999

4

Effect of ascorbate or N-acetylcysteine treatment in a patient with hereditary glutathione synthetase deficiency

Ajey Jain, Neil R.M. Buist, Nancy G. Kennaway, Berkley R. Powell, Peter A.M. Auld, Johannes Mårtensson

Journal:

The Journal of Pediatrics

Year:

1994

Language:

english

File:

PDF, 729 KB

english, 1994

5

10.1097/00004694-200301000-00018

Burns, Catherine, Powell, Berkley, Hsia, Y., Reinker, Kent

Journal:

Journal of Pediatric Orthopaedics

Year:

2003

Language:

english

File:

PDF, 433 KB

english, 2003

6

The genetic basis of DOORS syndrome: an exome-sequencing study

Campeau, Philippe M, Kasperaviciute, Dalia, Lu, James T, Burrage, Lindsay C, Kim, Choel, Hori, Mutsuki, Powell, Berkley R, Stewart, Fiona, Félix, Têmis Maria, van den Ende, Jenneke, Wisniewska, Marzen

Journal:

The Lancet Neurology

Year:

2014

Language:

english

File:

PDF, 2.11 MB

english, 2014

7

Near-total intestinal aganglionosis in the Waardenburg-Shah syndrome

Walton K.T Shim, Marta Derieg, Berkley R Powell, Y.Edward Hsia

Journal:

Journal of Pediatric Surgery

Year:

1999

Language:

english

File:

PDF, 2.44 MB

english, 1999

8

Dominantly inherited megalencephaly, muscle weakness, and myoliposis: A carnitine-deficient myopathy within the spectrum of the Ruvalcaba-Myhre-Smith syndrome

Berkley R. Powell, Sarojini S. Budden, Neil R.M. Buist

Journal:

The Journal of Pediatrics

Year:

1993

Language:

english

File:

PDF, 2.67 MB

english, 1993

9

X-linked dilated cardiomyopathy with neutropenia, growth retardation, and 3-methylglutaconic aciduria

Richard I. Kelley, John P. Cheatham, Bernard J. Clark, Michael A. Nigro, Berkley R. Powell, Geoffrey W. Sherwood, John T. Sladky, William P. Swisher

Journal:

The Journal of Pediatrics

Year:

1991

Language:

english

File:

PDF, 958 KB

english, 1991

10

Localization of a Multiple Synostoses–Syndrome Disease Gene to Chromosome 17q21-22

Deborah Krakow, Kent Reinker, Berkley Powell, Rita Cantor, Mary Ann Priore, Ann Garber, Ralph S. Lachman, David L. Rimoin, Daniel H. Cohn

Journal:

The American Journal of Human Genetics

Year:

1998

Language:

english

File:

PDF, 114 KB

english, 1998

11

Dyggve-Melchior-Clausen Syndrome: Report of Seven Patients With the Smith-McCort Variant and Review of the Literature

Burns, Catherine, Powell, Berkley R., Hsia, Y. Edward, Reinker, Kent

Journal:

Journal of Pediatric Orthopaedics

Year:

2003

Language:

english

File:

PDF, 433 KB

english, 2003

12

Dystrophin expression in the human retina is required for normal function as defined by electroretinography

Pillers, De-Ann M., Bulman, Dennis E., Weleber, Richard G., Sigesmund, Dayle A., Musarella, Maria A., Powell, Berkley R., Murphey, William H., Westall, Carol, Panton, Carole, Becker, Laurence E.

Journal:

Nature Genetics

Year:

1993

File:

PDF, 592 KB

1993

13

Maternal systemic primary carnitine deficiency uncovered by newborn screening: Clinical, biochemical, and molecular aspects

El-Hattab, Ayman W, Li, Fang-Yuan, Shen, Joseph, Powell, Berkley R, Bawle, Erawati V, Adams, Darius J, Wahl, Erica, Kobori, Joyce A, Graham, Brett, Scaglia, Fernando, Wong, Lee-Jun

Journal:

Genetics in Medicine

Year:

2010

Language:

english

File:

PDF, 277 KB

english, 2010

14

Clinical diagnoses that overlap with choroideremia

Lee, Thomas K.M., McTaggart, Kerry E., Sieving, Paul A., Heckenlively, John R., Levin, Alex V., Greenberg, Jacquie, Weleber, Richard G., Tong, Patrick Y., Anhalt, Edward F., Powell, Berkley R., MacDon

Journal:

Canadian Journal of Ophthalmology / Journal Canadien d'Ophtalmologie

Year:

2003

Language:

english

File:

PDF, 1.77 MB

english, 2003

15

Evidence That Smith-McCort Dysplasia and Dyggve-Melchior-Clausen Dysplasia Are Allelic Disorders That Result from Mutations in a Gene on Chromosome 18q12

Nadia Ehtesham, Rita M. Cantor, Lily M. King, Kent Reinker, Berkley R. Powell, Alan Shanske, Sheila Unger, David L. Rimoin, Daniel H. Cohn

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 721 KB

english, 2002

16

Mental Retardation and Abnormal Skeletal Development (Dyggve-Melchior-Clausen Dysplasia) Due to Mutations in a Novel, Evolutionarily Conserved Gene

Daniel H. Cohn, Nadia Ehtesham, Deborah Krakow, Sheila Unger, Alan Shanske, Kent Reinker, Berkley R. Powell, David L. Rimoin

Journal:

The American Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 2.47 MB

english, 2003

17

An X-linked syndrome of diarrhea, polyendocrinopathy, and fatal infection in infancy

Berkley R. Powell, Neil R.M. Buist, Peter Stenzel

Journal:

The Journal of Pediatrics

Year:

1982

Language:

english

File:

PDF, 5.15 MB

english, 1982

18

A Met-to-Val mutation in the skeletal muscle Na+ channel α-subunit in hyperkalaemic periodic paralysis

Rojas, Cecilia V., Wang, Jianzhou, Schwartz, Lisa S., Hoffman, Eric P., Powell, Berkley R., Brown Jr, Robert H.

Journal:

Year:

1991

File:

PDF, 548 KB

1991

19

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

20

CDKL5 and ARX Mutations in Males With Early-Onset Epilepsy

Mirzaa, Ghayda M., Paciorkowski, Alex R., Marsh, Eric D., Berry-Kravis, Elizabeth M., Medne, Livija, Grix, Art, Wirrell, Elaine C., Powell, Berkley R., Nickels, Katherine C., Burton, Barbara, Paras, A

Journal:

Pediatric Neurology

Year:

2013

Language:

english

File:

PDF, 742 KB

english, 2013

21

10.1097/00004694-200205000-00027

Reinker, Kent, Hsia, Y., Rimoin, David, Henry, George, Yuen, Juliet, Powell, Berkley, Wilcox, William

Journal:

Journal of Pediatric Orthopaedics

Year:

2002

Language:

english

File:

PDF, 489 KB

english, 2002

22

Psychiatry disabused

Powell, Berkley R.

Journal:

Nature Genetics

Year:

1995

File:

PDF, 260 KB

1995

23

69 Case report of patient with infantile-onset Pompe disease treated with alglucosidase alfa beginning at age 16

Judith Phalin, Berkley R. Powell, Susan C. Winter

Journal:

Molecular Genetics and Metabolism

Year:

2007

Language:

english

File:

PDF, 55 KB

english, 2007

24

Deficiency of dihydrolipoamide dehydrogenase due to two mutant alleles (E340K and G101del): Analysis of a family and prenatal testing

Young Soo Hong, Douglas S Kerr, Te-Chung Liu, Marilyn Lusk, Berkley R Powell, Mulchand S Patel

Journal:

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease

Year:

1997

Language:

english

File:

PDF, 346 KB

english, 1997

25

Isoforms of Mammalian Cytochrome c Oxidase:Correlation with Human Cytochrome c Oxidase Deficiency

Keenaway, Nancy G, Carrero-Valenzuela, Rooque D, Ewart, Gary, Balan, Vijay K, Lightowlers, Robert, Zhang, Yu-Zhong, Powell, Berkley R, Capaldi, Roderick A, Buist, Neil R M

Journal:

Pediatric Research

Year:

1990

Language:

english

File:

PDF, 5.45 MB

english, 1990

26

Metabolic Myopathies

ELLIOT, DIANE L., BUIST, NEIL R. M., GOLDBERG, LINN, KENNAWAY, NANCY G., PHIL, D., POWELL, BERKLEY R., KUEHL, KERRY S.

Journal:

Medicine (Williams & Wilkins)

Year:

1989

File:

PDF, 762 KB

1989

27

Orthopaedic Manifestations of Marinesco-Sjögren Syndrome

Reinker, Kent, Hsia, Y. Edward, Rimoin, David L., Henry, George, Yuen, Juliet, Powell, Berkley, Wilcox, William R.

Journal:

Journal of Pediatric Orthopaedics

Year:

2002

Language:

english

File:

PDF, 489 KB

english, 2002

28

Mosaicism for a full mutation, premutation, and deletion of the CGG repeats results in 22% FMRP and elevated FMR1 mRNA levels in a high-functioning fragile X male

Xiao-Dong Han, Berkley R. Powell, Judith L. Phalin, Farid F. Chehab

Journal:

American Journal of Medical Genetics Part A

Year:

2006

Language:

english

File:

PDF, 289 KB

english, 2006

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