Powell, Berkley R. : rechercher sur Z-Library

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1

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

Année:

1990

Langue:

english

Fichier:

PDF, 582 KB

english, 1990

2

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

Année:

1994

Langue:

english

Fichier:

PDF, 729 KB

english, 1994

3

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:

Année:

1994

Langue:

english

Fichier:

PDF, 2.56 MB

english, 1994

4

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

Année:

1999

Langue:

english

Fichier:

PDF, 87 KB

english, 1999

5

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

Année:

2006

Langue:

english

Fichier:

PDF, 289 KB

english, 2006

6

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:

Année:

1991

Fichier:

PDF, 548 KB

1991

7

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

Année:

1993

Fichier:

PDF, 592 KB

1993

8

Psychiatry disabused

Powell, Berkley R.

Journal:

Nature Genetics

Année:

1995

Fichier:

PDF, 260 KB

1995

9

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

Année:

2007

Langue:

english

Fichier:

PDF, 55 KB

english, 2007

10

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

Année:

2010

Langue:

english

Fichier:

PDF, 573 KB

english, 2010

11

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

Année:

1999

Langue:

english

Fichier:

PDF, 2.44 MB

english, 1999

12

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

Année:

1991

Langue:

english

Fichier:

PDF, 958 KB

english, 1991

13

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

Année:

1993

Langue:

english

Fichier:

PDF, 2.67 MB

english, 1993

14

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

Année:

1997

Langue:

english

Fichier:

PDF, 346 KB

english, 1997

15

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

Année:

1998

Langue:

english

Fichier:

PDF, 114 KB

english, 1998

16

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

Année:

2002

Langue:

english

Fichier:

PDF, 721 KB

english, 2002

17

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

Année:

2003

Langue:

english

Fichier:

PDF, 2.47 MB

english, 2003

18

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

Année:

1982

Langue:

english

Fichier:

PDF, 5.15 MB

english, 1982

19

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

Année:

2013

Langue:

english

Fichier:

PDF, 742 KB

english, 2013

20

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

Année:

2014

Langue:

english

Fichier:

PDF, 2.11 MB

english, 2014

21

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

Année:

2003

Langue:

english

Fichier:

PDF, 1.77 MB

english, 2003

22

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

Année:

2010

Langue:

english

Fichier:

PDF, 277 KB

english, 2010

23

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

Année:

1990

Langue:

english

Fichier:

PDF, 5.45 MB

english, 1990

24

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)

Année:

1989

Fichier:

PDF, 762 KB

1989

25

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

Année:

2003

Langue:

english

Fichier:

PDF, 433 KB

english, 2003

26

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

Année:

2002

Langue:

english

Fichier:

PDF, 489 KB

english, 2002

27

10.1097/00004694-200301000-00018

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

Journal:

Journal of Pediatric Orthopaedics

Année:

2003

Langue:

english

Fichier:

PDF, 433 KB

english, 2003

28

10.1097/00004694-200205000-00027

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

Journal:

Journal of Pediatric Orthopaedics

Année:

2002

Langue:

english

Fichier:

PDF, 489 KB

english, 2002