Joel, Charrow: search on Z-Library

The world's largest scientific articles store. 70,000,000+ articles for free.

Don't use scam websites

1

Ashkenazi Jewish genetic disorders

Journal:

Familial Cancer

Year:

2004

Language:

english

File:

PDF, 123 KB

english, 2004

2

Intracranial gliomas in neurofibromatosis type 1

Listernick, Robert, Charrow, Joel, Gutmann, David H.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 343 KB

english, 1999

3

Documented Transient Third-Degree Atrioventricular Block and Asystole in a Child with Familial Dysautonomia

Amichay Rotstein, Joel Charrow, Barbara J. Deal

Journal:

Pediatric Cardiology

Year:

2008

Language:

english

File:

PDF, 267 KB

english, 2008

4

Gaucher disease type 1: Revised recommendations on evaluations and monitoring for adult patients

Neal J. Weinreb, Mario C. Aggio, Hans C. Andersson, Generoso Andria, Joel Charrow, Joe T.R. Clarke, Anders Erikson, Pilar Giraldo, Jack Goldblatt, Carla Hollak, Hiroyuki Ida, Paige Kaplan, Edwin H. Ko

Journal:

Seminars in Hematology

Year:

2004

Language:

english

File:

PDF, 116 KB

english, 2004

5

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

6

Fostering Humanism in Medicine through Art and Reflection

Gooding, Holly C., Quinn, Mariah, Martin, Barbara, Charrow, Alexandra, Katz, Joel T.

Journal:

The Journal of Museum Education

Year:

2016

Language:

english

File:

PDF, 771 KB

english, 2016

7

Transformation in pre-treatment presentations of Gaucher disease during the first two decades of imiglucerase enzyme replacement therapy: a report from the International Collaborative Gaucher Group Gaucher Registry

Weinreb, Neal J, Batista, Julie, Andersson, Hans C, Balwani, Manisha, Andrew Burrow, T., Charrow, Joel, Kaplan, Paige, Khan, Aneal, Kishnani, Priya S, Kolodny, Edwin H, Rosenbloom, Barry E, Ronald Sco

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 51 KB

english, 2017

8

Once- versus twice-daily dosing of eliglustat in adults with Gaucher disease type 1: The Phase 3, randomized, double-blind EDGE trial

Charrow, Joel, Fraga, Cristina, Gu, Xuefan, Ida, Hiroyuki, Longo, Nicola, Lukina, Elena, Nonino, Alexandre, Gaemers, Sebastiaan J.M., Jouvin, Marie-Helene, Li, Jing, Wu, Yaoshi, Xue, Yong, Peterschmit

Journal:

Molecular Genetics and Metabolism

Year:

2018

Language:

english

File:

PDF, 653 KB

english, 2018

9

Long-term stability in randomized and non-randomized patients in the phase 3 randomized, double-blind EDGE trial of once- versus twice-daily dosing of eliglustat in patients with Gaucher disease type 1

Charrow, Joel, Fraga, Cristina, Gu, Xuefan, Ida, Hiroyuki, Longo, Nicola, Lukina, Elena, Nonino, Alexandre, Gaemers, Sebastiaan J.M., Jouvin, Marie-Helene, Li, Jing, Wu, Yaoshi, Xue, Yong, Judith Pete

Journal:

Molecular Genetics and Metabolism

Year:

2018

Language:

english

File:

PDF, 51 KB

english, 2018

10

Myelomeningocele and Waardenburg syndrome (type 3) in patients with interstitial deletions of 2q35 and the PAX3 gene: Possible digenic inheritance of a neural tube defect

Nye, Jeffrey S., Balkin, Nancy, Lucas, Heather, Knepper, Paul A., McLone, David G., Charrow, Joel

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 616 KB

english, 1998

11

Neural tube defects and the 13q deletion syndrome: Evidence for a critical region in 13q33-34

Luo, Jeffrey, Balkin, Nancy, Stewart, Julie F., Sarwark, John F., Charrow, Joel, Nye, Jeffrey S.

Journal:

American Journal of Medical Genetics

Year:

2000

Language:

english

File:

PDF, 217 KB

english, 2000

12

Neural crest anomaly syndromes in children with spina bifida

Nye, Jeffrey S., Mclone, David G., Charrow, Joel, Hayes, Erin A.

Journal:

Year:

1999

Language:

english

File:

PDF, 139 KB

english, 1999

13

Myelocystocele-cloacal exstrophy in a pedigree with a mitochondrial 12S rRNA mutation, aminoglycoside-induced deafness, pigmentary disturbances, and spinal anomalies

Nye, Jeffrey S., Hayes, Erin A., Amendola, Michael, Vaughn, Daleik, Charrow, Joel, Mclone, David G., Speer, Marcy C., Nance, Walter E., Pandya, Arti

Journal:

Year:

2000

Language:

english

File:

PDF, 185 KB

english, 2000

14

Comments on neurofibromatosis 1 and optic pathway tumors

Robert Listernick, Joel Charrow, David H. Gutmann

Journal:

American Journal of Medical Genetics Part A

Year:

2001

Language:

english

File:

PDF, 27 KB

english, 2001

15

Guidance on the use of miglustat for treating patients with type 1 Gaucher disease

Neal J. Weinreb, John A. Barranger, Joel Charrow, Gregory A. Grabowski, Henry J. Mankin, Pramod Mistry

Journal:

American Journal of Hematology

Year:

2005

Language:

english

File:

PDF, 101 KB

english, 2005

16

Duplication 3p syndrome: Report of a new case and review of the literature

Dr. Joel Charrow, Maimon M. Cohen, Diana Meeker, John M. Opitz

Journal:

American Journal of Medical Genetics Part A

Year:

1981

Language:

english

File:

PDF, 332 KB

english, 1981

17

The Jansen type of metaphyseal chondrodysplasia: Confirmation of dominant inheritance and review of radiographic manifestations in the newborn and adult

Dr. Joel Charrow, Andrew K. Poznanski, John M. Opitz

Journal:

American Journal of Medical Genetics Part A

Year:

1984

Language:

english

File:

PDF, 440 KB

english, 1984

18

Uncombable hair (pili trianguli et Canaliculi): Evidence for dominant inheritance with complete penetrance based on scanning electron microscopy

Adelaide A. Hebert, Dr. Joel Charrow, Nancy B. Esterly, David F. Fretzin, John M. Opitz, James F. Reynolds

Journal:

American Journal of Medical Genetics Part A

Year:

1987

Language:

english

File:

PDF, 621 KB

english, 1987

19

Autosomal recessive cerebellar hypoplasia and endosteal sclerosis: A newly recognized syndrome

Dr. Joel Charrow, Andrew K. Poznanski, Frances M. Unger, Meinhard Robinow

Journal:

American Journal of Medical Genetics Part A

Year:

1991

Language:

english

File:

PDF, 473 KB

english, 1991

20

Autosomal dominant multiple café-au-lait spots and neurofibromatosis-1: Evidence of non-linkage

Dr. Joel Charrow, Robert Listernick, Kenneth Ward

Journal:

American Journal of Medical Genetics Part A

Year:

1993

Language:

english

File:

PDF, 249 KB

english, 1993

21

Segmental neurofibromatosis in childhood

Robert Listernick, Anthony J. Mancini, Joel Charrow

Journal:

American Journal of Medical Genetics Part A

Year:

2003

Language:

english

File:

PDF, 55 KB

english, 2003

22

Optic pathway gliomas in neurofibromatosis type 1: The effect of presenting symptoms on outcome

Allison King, Robert Listernick, Joel Charrow, Linda Piersall, David H. Gutmann

Journal:

American Journal of Medical Genetics Part A

Year:

2003

Language:

english

File:

PDF, 61 KB

english, 2003

23

Knowledge without truth: Screening for complications of neurofibromatosis type 1 in childhood

Robert Listernick, Joel Charrow

Journal:

American Journal of Medical Genetics Part A

Year:

2004

Language:

english

File:

PDF, 46 KB

english, 2004

24

The genetics of tethered cord syndrome

Alexander G. Bassuk, David Craig, Ali Jalali, Abhishek Mukhopadhyay, Francine Kim, Joel Charrow, Uzel Gulbu, Leon G. Epstein, Robin Bowman, David Mclone, Hisato Yagi, Rumiko Matsuoka, Dietrich A. Step

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 96 KB

english, 2005

25

Population-based Tay-Sachs screening among Ashkenazi Jewish young adults in the 21st century: Hexosaminidase a enzyme assay is essential for accurate testing

Adele Schneider, Sachiko Nakagawa, Rosanne Keep, Darnelle Dorsainville, Joel Charrow, Kirk Aleck, Jodi Hoffman, Sherman Minkoff, David Finegold, Wei Sun, Andrew Spencer, Johannah Lebow, Jie Zhan, Step

Journal:

American Journal of Medical Genetics Part A

Year:

2009

Language:

english

File:

PDF, 82 KB

english, 2009

26

Fanconi–Bickel syndrome: Report of life history and successful pregnancy in an affected patient

Loren Pena, Joel Charrow

Journal:

American Journal of Medical Genetics Part A

Year:

2011

Language:

english

File:

PDF, 80 KB

english, 2011

27

Neuroimaging findings in children with rare or novel de novo chromosomal anomalies

Leon G. Epstein, Ali Jalali, Ajit N. Chary, Sophia Khan, Joshua Ross, Justine Coppinger, Katrin Carlson, Joel Charrow, Barbara Burton, Donald Zimmerman, John Curran, Francine Kim, Pam Nguyen, Delilah

Journal:

Birth Defects Research Part A: Clinical and Molecular Teratology

Year:

2008

Language:

english

File:

PDF, 455 KB

english, 2008

28

Carboplatin-induced regression of an optic pathway tumor in a child with neurofibromatosis

Joel Charrow, Robert Listernick, Mark J. Greenwald, Lakshmi Das, Mary Ann Radkowski

Journal:

Pediatric Blood & Cancer

Year:

1993

Language:

english

File:

PDF, 1.18 MB

english, 1993

29

Correction of enzyme levels with allogeneic hematopoeitic progenitor cell transplantation in Niemann-Pick type B

Jennifer Schneiderman, Kimberly Thormann, Joel Charrow, Morris Kletzel

Journal:

Pediatric Blood & Cancer

Year:

2007

Language:

english

File:

PDF, 82 KB

english, 2007

30

Neurofibromatosis type 1 and high-grade tumors of the central nervous system

Amy Rosenfeld, Robert Listernick, Joel Charrow, Stewart Goldman

Journal:

Child's Nervous System

Year:

2010

Language:

english

File:

PDF, 91 KB

english, 2010

31

Pediatric non-neuronopathic Gaucher disease: presentation, diagnosis and assessment. Consensus statements

GregoryA. Grabowski, Generoso Andria, Antonio Baldellou, PaulineE. Campbell, Joel Charrow, IanJ. Cohen, ChrisM. Harris, Paige Kaplan, Eugen Mengel, Miguel Pocovi, Ashok Vellodi

Journal:

European Journal of Pediatrics

Year:

2004

Language:

english

File:

PDF, 235 KB

english, 2004

32

Paediatric non-neuronopathic Gaucher disease: recommendations for treatment and monitoring

Antonio Baldellou, Generoso Andria, PaulineE. Campbell, Joel Charrow, IanJ. Cohen, GregoryA. Grabowski, ChrisM. Harris, Paige Kaplan, Kieran McHugh, Eugen Mengel, Ashok Vellodi

Journal:

European Journal of Pediatrics

Year:

2004

Language:

english

File:

PDF, 202 KB

english, 2004

33

Nonmendelian inheritance

Journal:

Current Problems in Pediatric and Adolescent Health Care

Year:

1992

Language:

english

File:

PDF, 1.31 MB

english, 1992

34

Carboplatin Therapy for Optic Pathway Tumors in Children with Neurofibromatosis Type-1

Robert Listernick, Joel Charrow, Tadanori Tomita, Stewart Goldman

Journal:

Journal of Neuro-Oncology

Year:

1999

Language:

english

File:

PDF, 28 KB

english, 1999

35

Growth Hormone Excess in Children with Neurofibromatosis Type 1-Associated and Sporadic Optic Pathway Tumors

Jami Josefson, Robert Listernick, Jason R. Fangusaro, Joel Charrow, Reema Habiby

Journal:

The Journal of Pediatrics

Year:

2011

Language:

english

File:

PDF, 105 KB

english, 2011

36

Gustatory Flushing (Auriculotemporal Nerve Syndrome) in Children with Neurofibromatosis Type 1 and Facial Plexiform Neurofibromas

Robert Listernick, Eric Legius, Joel Charrow

Journal:

The Journal of Pediatrics

Year:

2011

Language:

english

File:

PDF, 277 KB

english, 2011

37

Late onset GM2 gangliosidosis: an α-locus genetic compound with near normal hexosaminidase activity

Joel Charrow, Koji Inui, David A. Wenger

Journal:

Clinical Genetics

Year:

1985

Language:

english

File:

PDF, 467 KB

english, 1985

38

Ganglioside loading of cultured fibroblasts: a provocative method for the diagnosis of the GM2 gangliosidoses

Joel Charrow, Helen J. Binns

Journal:

Clinica Chimica Acta

Year:

1986

Language:

english

File:

PDF, 676 KB

english, 1986

39

Orbital optic nerve gliomas in children with neurofibromatosis type 1

Janice Lasky Zeid, Joel Charrow, Mariana Sandu, Stewart Goldman, Robert Listernick

Journal:

Journal of American Association for Pediatric Ophthalmology and Strabismus

Year:

2006

Language:

english

File:

PDF, 87 KB

english, 2006

40

Enzyme replacement therapy and monitoring for children with type 1 Gaucher disease: consensus recommendations

Joel Charrow, Hans C. Andersson, Paige Kaplan, Edwin H. Kolodny, Pramod Mistry, Gregory Pastores, Ainu Prakash-Cheng, Barry E. Rosenbloom, C.Ronald Scott, Rebecca S. Wappner, Neal J. Weinreb

Journal:

The Journal of Pediatrics

Year:

2004

Language:

english

File:

PDF, 162 KB

english, 2004

41

Episodic myoglobinuria in a primary gamma-sarcoglycanopathy

Loren Pena, Katherine Kim, Joel Charrow

Journal:

Neuromuscular Disorders

Year:

2010

Language:

english

File:

PDF, 418 KB

english, 2010

42

144. Fabry nephropathy (FN) and the agalsidase beta and ARBs and ACE inhibitor treatment (FAACET) study: Determinants of proteinuria during the titration phase

David G. Warnock, Leslie Jackson, Christie Thomas, Emily Phillips, Tony Guasch, Dawn A. Laney, Joel Charrow, Shanna Widera

Journal:

Molecular Genetics and Metabolism

Year:

2010

Language:

english

File:

PDF, 44 KB

english, 2010

43

Women and Fabry disease: Recommendations and compliance

Kristen De Berg, Joel Charrow, Dania DAchille, Katherine Kim, Suzanne O'Neill

Journal:

Molecular Genetics and Metabolism

Year:

2011

Language:

english

File:

PDF, 60 KB

english, 2011

44

Continued efficacy of cerezyme after 10 years of treatment

Neal Weinreb, Manisha Balwani, Joel Charrow, Alexander Cole, Radhika Tripuraneni, Jacobo Villalobos, Marcelo Kerstenetzky, Carla Hollak

Journal:

Molecular Genetics and Metabolism

Year:

2011

Language:

english

File:

PDF, 56 KB

english, 2011

45

A Pilot Newborn Screening Program for Lysosomal Storage Disorders (LSD) in Illinois

Barbara Burton, Joel Charrow, Brad Angle, Shanna Widera, Darrel Waggoner

Journal:

Molecular Genetics and Metabolism

Year:

2012

Language:

english

File:

PDF, 67 KB

english, 2012

46

Persistence of high sustained antibodies to enzyme replacement therapy despite extensive immunomodulatory therapy in an infant with Pompe disease: Need for agents to target antibody-secreting plasma cells

Suhrad G. Banugaria, Trusha T. Patel, Joanne Mackey, Stuti Das, Andrea Amalfitano, Amy S. Rosenberg, Joel Charrow, Y.-T. Chen, Priya S. Kishnani

Journal:

Molecular Genetics and Metabolism

Year:

2012

Language:

english

File:

PDF, 364 KB

english, 2012

47

Effectiveness of enzyme replacement therapy in 1028 patients with type 1 Gaucher disease after 2 to 5 years of treatment: a report from the Gaucher Registry

Neal J Weinreb, Joel Charrow, Hans C Andersson, Paige Kaplan, Edwin H Kolodny, Pramod Mistry, Gregory Pastores, Barry E Rosenbloom, C.Ronald Scott, Rebecca S Wappner, Ari Zimran

Journal:

The American Journal of Medicine

Year:

2002

Language:

english

File:

PDF, 150 KB

english, 2002

48

Neurofibromatosis type 1 in childhood

Robert Listernick, Joel Charrow

Journal:

The Journal of Pediatrics

Year:

1990

Language:

english

File:

PDF, 899 KB

english, 1990

49

Emergence of optic pathway gliomas in children with neurofibromatosis type 1 after normal neuroimaging results

Robert Listernick, Joel Charrow, Mark Greenwald

Journal:

The Journal of Pediatrics

Year:

1992

Language:

english

File:

PDF, 1.67 MB

english, 1992

50

Reply

Robert Listernick, Joel Charrow

Journal:

The Journal of Pediatrics

Year:

1993

Language:

english

File:

PDF, 186 KB

english, 1993