Martin Bialer: search on Z-Library

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1

A LINGUAGEM NO AUTISMO

BIALER, MARINA MARTINS

Journal:

Psicologia em Estudo

Year:

2017

File:

PDF, 270 KB

2017

2

APRESENTAÇAO PERCEPTIVA NO AUTISMO: ESTUDO DA AUTOBIOGRAFIA DE DONNA WILLIAMS

Bialer, Marina Martins, Coelho Júnior, Nelson Ernesto

Journal:

Psicologia em Estudo

Year:

2018

File:

PDF, 228 KB

2018

3

A voz no autismo: uma análise baseada em autobiografias

Bialer, Marina Martins

Journal:

Estilos da Clinica

Year:

2017

File:

PDF, 348 KB

2017

4

Allan-herndon-dudley syndrome: Clinical and linkage studies on a second family

Dr. Martin G. Bialer, Laura Lawrence, Roger E. Stevenson, Gittel Silverberg, Marjorie K. Williams, J. Fernando Arena, Herbert A. Lubs, Charles E. Schwartz

Journal:

American Journal of Medical Genetics Part A

Year:

1992

Language:

english

File:

PDF, 606 KB

english, 1992

5

Clinical spectrum in homozygotes and compound heterozygotes inheriting cystic fibrosis mutation 3849+10kbC>T: Singnificance for geneticists

Fred Gilbert, Zhen Li, Iordanis Arzimanoglou, Martin Bialer, Carolyn Denning, Jack Gorvoy, Joyce Honorof, Celia Ores, Lynne Quittell, Leonard Rossoff, Kathleen Valverde

Journal:

American Journal of Medical Genetics Part A

Year:

1995

Language:

english

File:

PDF, 463 KB

english, 1995

6

MEF2CHaploinsufficiency features consistent hyperkinesis, variable epilepsy, and has a role in dorsal and ventral neuronal developmental pathways

Paciorkowski, Alex R., Traylor, Ryan N., Rosenfeld, Jill A., Hoover, Jacqueline M., Harris, Catharine J., Winter, Susan, Lacassie, Yves, Bialer, Martin, Lamb, Allen N., Schultz, Roger A., Berry-Kravis

Journal:

Year:

2013

Language:

english

File:

PDF, 833 KB

english, 2013

7

Rapid progression and mortality of lysosomal acid lipase deficiency presenting in infants

Jones, Simon A., Valayannopoulos, Vassili, Schneider, Eugene, Eckert, Stephen, Banikazemi, Maryam, Bialer, Martin, Cederbaum, Stephen, Chan, Alicia, Dhawan, Anil, Di Rocco, Maja, Domm, Jennifer, Enns,

Journal:

Genetics in Medicine

Year:

2015

Language:

english

File:

PDF, 599 KB

english, 2015

8

Do caos sensorial às primeiras modalidades de organização psíquica: um estudo a partir da autobiografia da autista Donna Williams

Bialer, Marina Martins, Coelho Júnior, Nelson Ernesto

Journal:

Estilos da Clinica

Year:

2018

File:

PDF, 334 KB

2018

9

Topiramate and Lamotrigine Pharmacokinetics during Repetitive Monotherapy and Combination Therapy in Epilepsy Patients

Dennis R. Doose, Martin J. Brodie, Elaine A. Wilson, David Chadwick, John Oxbury, David J. Berry, Stefan Schwabe, Meir Bialer

Journal:

Year:

2003

Language:

english

File:

PDF, 91 KB

english, 2003

10

Postnatal confirmation of prenatally diagnosed trisomy 16 mosaicism in two phenotypically abnormal liveborns

Beth A. Pletcher, Maureen M. Sanz, Jerrold S. Schlessel, Suphat Kunaporn, Carrie McKenna, Martin G. Bialer, M. Lita Alonso, Ann-Leslie Zaslav, W. Ted Brown, James H. Ray

Journal:

Prenatal Diagnosis

Year:

1994

Language:

english

File:

PDF, 762 KB

english, 1994

11

A Rare Presentation of Cardiomyopathy in Pregnancy

Donald, Elena, Leb, Jay, Bialer, Martin, Axsom, Kelly

Journal:

JACC Case Reports

Year:

2020

File:

PDF, 418 KB

2020

12

Female external genitalia and müllerian duct derivatives in a 46,XY infant with the Smith-Lemli-Opitz syndrome

Martin G. Bialer, Victor B. Penchaszadeh, Ellen Kahn, Richard Libes, Gary Krigsman, Martin L. Lesser, John M. Opitz, James F. Reynolds

Journal:

American Journal of Medical Genetics Part A

Year:

1987

Language:

english

File:

PDF, 525 KB

english, 1987

13

Tissue differences in fragile X mosaics: Mosaicism in blood cells may differ greatly from skin

Dobkin, Carl S., Nolin, Sarah L., Cohen, Ira, Sudhalter, Vicki, Bialer, Martin G., Ding, Xiao-Hua, Jenkins, E. C., Zhong, Nan, Brown, W. Ted

Journal:

American Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 661 KB

english, 1996

14

Progression of cardiac disease in emery-dreifuss muscular dystrophy

Martin G. Bialer, Nancy L. Mcdaniel, Thaddeus E. Kelly

Journal:

Clinical Cardiology

Year:

1991

Language:

english

File:

PDF, 592 KB

english, 1991

15

Cholesteryl ester storage disease: Review of the findings in 135 reported patients with an underdiagnosed disease

Bernstein, Donna L., Hülkova, Helena, Bialer, Martin G., Desnick, Robert J.

Journal:

Journal of Hepatology

Year:

2013

Language:

english

File:

PDF, 1.89 MB

english, 2013

16

Safety and clinical activity of elosulfase alfa in pediatric patients with Morquio A syndrome (mucopolysaccharidosis IVA) less than 5 y

Jones, Simon A., Bialer, Martin, Parini, Rossella, Martin, Ken, Wang, Hui, Yang, Ke, Shaywitz, Adam J., Harmatz, Paul

Journal:

Pediatric Research

Year:

2015

Language:

english

File:

PDF, 463 KB

english, 2015

17

Duane syndrome in association with 48,XXYY karyotype

Adina Weis, Martin G. Bialer, Sylvia Kodsi

Journal:

Journal of American Association for Pediatric Ophthalmology and Strabismus

Year:

2011

Language:

english

File:

PDF, 56 KB

english, 2011

18

Subclavian artery pseudoaneurysm in type IV Ehlers-Danlos Syndrome

Rossi, Peter I., Scher, Larry A., Friedman, Steven G., Hall, Michae H., Boxer, Robert A., Bialer, Martin G.

Journal:

Journal of Vascular Surgery

Year:

1998

Language:

english

File:

PDF, 54 KB

english, 1998

19

Prenatal diagnosis of thrombocytopenia in TAR syndrome

Martin G. Bialer

Journal:

Prenatal Diagnosis

Year:

1994

Language:

english

File:

PDF, 195 KB

english, 1994

20

Cholesteryl ester storage disease is associated with progressive liver disease and childhood onset cirrhosis in a series of six liver biopsies spanning 22years

Bernstein, Donna L., Edelman, Morris, Alexis, Claudine, Bialer, Martin G., Levine, Jeremiah, Fox, Joyce E., Desnick, Robert J.

Journal:

Molecular Genetics and Metabolism

Year:

2014

Language:

english

File:

PDF, 319 KB

english, 2014

21

A Cryptic Cause of Cardiac Arrest

Mokhateb-Rafii, Tanya, Bialer, Martin, Rodgers, Shaun, Moore, Christine, Sweberg, Todd

Journal:

The Journal of Emergency Medicine

Year:

2018

Language:

english

File:

PDF, 366 KB

english, 2018

22

Apparent Ruvalcaba syndrome with genitourinary abnormalities

Dr. Martin G. Bialer, William G. Wilson, Thaddeus E. Kelly

Journal:

American Journal of Medical Genetics Part A

Year:

1989

Language:

english

File:

PDF, 425 KB

english, 1989

23

Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures

Petrovski, Slavé, Küry, Sébastien, Myers, Candace T., Anyane-Yeboa, Kwame, Cogné, Benjamin, Bialer, Martin, Xia, Fan, Hemati, Parisa, Riviello, James, Mehaffey, Michele, Besnard, Thomas, Becraft, Emil

Journal:

The American Journal of Human Genetics

Year:

2016

Language:

english

File:

PDF, 510 KB

english, 2016

24

PRENATAL DIAGNOSIS OF MITOCHONDRIAL FATTY ACID OXIDATION DEFECTS

MOHAMED A. NADA, CHRISTINE VIANEY-SABAN, CHARLES R. ROE, JIA-HUAN DING, MONIQUE MATHIEU, REBECCA S. WAPPNER, MARTIN G. BIALER, JULIE A. MCGLYNN, GINETTE MANDON

Journal:

Prenatal Diagnosis

Year:

1996

Language:

english

File:

PDF, 577 KB

english, 1996

25

Allan-Herndon-Dudley Syndrome and the Monocarboxylate Transporter 8 (MCT8) Gene

Charles E. Schwartz, Melanie M. May, Nancy J. Carpenter, R. Curtis Rogers, Judith Martin, Martin G. Bialer, Jewell Ward, Javier Sanabria, Silvana Marsa, James A. Lewis, Roberto Echeverri, Herbert A. L

Journal:

The American Journal of Human Genetics

Year:

2005

Language:

english

File:

PDF, 1.09 MB

english, 2005

26

Recurrent HERV-H-Mediated 3q13.2-q13.31 Deletions Cause a Syndrome of Hypotonia and Motor, Language, and Cognitive Delays

Shuvarikov, Andrey, Campbell, Ian M., Dittwald, Piotr, Neill, Nicholas J., Bialer, Martin G., Moore, Christine, Wheeler, Patricia G., Wallace, Stephanie E., Hannibal, Mark C., Murray, Michael F., Giov

Journal:

Year:

2013

Language:

english

File:

PDF, 969 KB

english, 2013

27

Severe and rapid disease course in the natural history of infants with lysosomal acid lipase deficiency

Jones, Simon A., Bernstein, Donna, Bialer, Martin, Dhawan, Anil, Hendriksz, Chris, Whitley, Chester B., Banikazemi, Maryam, Chan, Alicia, Guardamagna, Ornella, Raiman, Julian, Gamal, Iman, Selim, Lail

Journal:

Molecular Genetics and Metabolism

Year:

2014

Language:

english

File:

PDF, 72 KB

english, 2014

28

Syndromic cryptophthalmos

Martin G. Bialer, William G. Wilson, John M. Opitz

Journal:

American Journal of Medical Genetics Part A

Year:

1988

Language:

english

File:

PDF, 134 KB

english, 1988

29

Pompe disease: Dramatic improvement in gastrointestinal function following enzyme replacement therapy. A report of three later-onset patients

Donna L. Bernstein, Martin G. Bialer, Lakshmi Mehta, Robert J. Desnick

Journal:

Molecular Genetics and Metabolism

Year:

2010

Language:

english

File:

PDF, 161 KB

english, 2010

30

Single-Needle Insertion Technique for Thoracocentesis for Bilateral Pleural Effusions

Petrikovsky, Boris, Gross, Beth, Spinazzola, Regina, Bialer, Martin

Journal:

Fetal Diagnosis and Therapy

Year:

1996

Language:

english

File:

PDF, 846 KB

english, 1996

31

Prenatal evaluation and in utero platelet transfusion for thrombocytopenia absent radii syndrome

Mark Weinblatt, Boris Petrikovsky, Martin Bialer, Joseph Kochen, Rita Harper

Journal:

Prenatal Diagnosis

Year:

1994

Language:

english

File:

PDF, 431 KB

english, 1994

32

Prenatal sonographic findings in a case of Wolman's disease

Blitz, Matthew J., Rochelson, Burton, Sood, Monica, Bialer, Martin G., Vohra, Nidhi

Journal:

Journal of Clinical Ultrasound

Year:

2017

Language:

english

File:

PDF, 206 KB

english, 2017

33

Inherited duplication Xq27-qter at Xp22.3 in severely affected males: Molecular cytogenetic evaluation and clinical description in three unrelated families

Goodman, Barbara K., Shaffer, Lisa G., Rutberg, Julie, Leppert, Mary, Harum, Karen, Gagos, Sarantis, Ray, James H., Bialer, Martin G., Zhou, Xianting, Pletcher, Beth A., Shapira, Stuart K., Geraghty,

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 1.25 MB

english, 1998

34

Hypophosphatasia: molecular testing of 19 prenatal cases and discussion about genetic counseling

Brigitte Simon-Bouy, Agnès Taillandier, Delphine Fauvert, Isabelle Brun-Heath, Jean-Louis Serre, Carmen G. Armengod, Martin G. Bialer, Michèle Mathieu, Jacques Cousin, David Chitayat, Jan Liebelt, Bar

Journal:

Prenatal Diagnosis

Year:

2008

Language:

english

File:

PDF, 77 KB

english, 2008

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