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1

THUCYDIDES AND LAW: A RESPONSE TO LEITER

Shanske, Darien

Journal:

Année:

2013

Langue:

english

Fichier:

PDF, 401 KB

english, 2013

2

Four Theses: Preliminary to an Appeal to Equity

Journal:

Stanford Law Review

Année:

2005

Langue:

english

Fichier:

PDF, 2.83 MB

english, 2005

3

Social Workers as Transition Brokers: Facilitating the Transition From Pediatric to Adult Medical Care

Shanske, Susan, Arnold, Janis, Carvalho, Maria, Rein, Jennifer

Journal:

Social Work in Health Care

Année:

2012

Langue:

english

Fichier:

PDF, 142 KB

english, 2012

4

Social workers as care coordinators: Leaders in ensuring effective, compassionate care

Monterio, Christine, Arnold, Janis, Locke, Susanna, Steinhorn, Lena, Shanske, Susan

Journal:

Social Work in Health Care

Année:

2016

Langue:

english

Fichier:

PDF, 1.47 MB

english, 2016

5

A novel mitochondrial 12SrRNA point mutation in parkinsonism, deafness, and neuropathy

Dominic Thyagarajan, Susan Bressman, Claudio Bruno, Serge Przedborski, Sara Shanske, Timothy Lynch, Stanley Fahn, Salvatore DiMauro

Journal:

Annals of Neurology

Année:

2000

Langue:

english

Fichier:

PDF, 1.20 MB

english, 2000

6

Biochemistry and molecular genetics of human glycogenoses: An overview

Salvatore DiMauro, Seiichi Tsujino, Sara Shanske, Lewis P. Rowland

Journal:

Année:

1995

Langue:

english

Fichier:

PDF, 916 KB

english, 1995

7

Exome Sequence Identifies RIPK4 as the Bartsocas- Papas Syndrome Locus

Karen Mitchell, James O'Sullivan, Caterina Missero, Ed Blair, Rose Richardson, Beverley Anderson, Dario Antonini, Jeffrey C. Murray, Alan L. Shanske, Brian C. Schutte, Rose-Anne Romano, Satrajit Sinha

Journal:

The American Journal of Human Genetics

Année:

2012

Langue:

english

Fichier:

PDF, 660 KB

english, 2012

8

The Philosophy of Tax: A Review of David Foster Wallace's The Pale King

Journal:

Law Culture and the Humanities

Année:

2013

Langue:

english

Fichier:

PDF, 1001 KB

english, 2013

9

Molecular basis of muscle phosphoglycerate mutase (PGAM-M) deficiency in the Italian kindred

Antonio Toscano, Seiichi Tsujino, Giuseppe Vita, Sara Shanske, Corrado Messina, Salvatore DiMauro

Journal:

Année:

1996

Langue:

english

Fichier:

PDF, 367 KB

english, 1996

10

Study of mitochondrial DNA depletion in muscle by single-fiber polymerase chain reaction

Monica Sciacco, Pasquale Gasparo-Rippa, Tuan H. Vu, Kurenai Tanji, Sara Shanske, Jerry R. Mendell, Eric A. Schon, Salvatore DiMauro, Eduardo Bonilla

Journal:

Année:

1998

Langue:

english

Fichier:

PDF, 432 KB

english, 1998

11

Metabolic myopathies

Dr. Salvatore DiMauro, Armand F. Miranda, Saburo Sakoda, Eric A. Schon, Serenella Servidei, Sara Shanske, Massimo Zeviani, John M. Opitz, James F. Reynolds

Journal:

American Journal of Medical Genetics Part A

Année:

1986

Langue:

english

Fichier:

PDF, 1.11 MB

english, 1986

12

Hirschsprung disease in an infant with a contiguous gene syndrome of chromosome 13

Alan Shanske, Jose C. Ferreira, Jay C. Leonard, Peter Fuller, Robert W. Marion

Journal:

American Journal of Medical Genetics Part A

Année:

2001

Langue:

english

Fichier:

PDF, 175 KB

english, 2001

13

Phenotypic heterogeneity in families with the myoclonic epilepsy and ragged-red fiber disease point mutation in mitochondrial DNA

Dr., MD W. D. Graf, MD S. M. Sumi, MD M. K. Copass, MD L. M. Ojemann, MD W. T. Longstreth Jr, PhD S. Shanske, MD A. Lombes, MD S. DiMauro

Journal:

Annals of Neurology

Année:

1993

Langue:

english

Fichier:

PDF, 695 KB

english, 1993

14

Mitochondrial DNA and RNA processing in MELAS

Petra Kaufmann, Sara Shanske, Michio Hirano, Salvatore DiMauro, Michael P. King, Yasutoshi Koga, Eric A. Schon

Journal:

Annals of Neurology

Année:

1996

Langue:

english

Fichier:

PDF, 896 KB

english, 1996

15

Benign course of glycogen storage disease type IIb in two brothers: Nature or nurture?

Alfred E. Slonim, Linda Bulone, Jennifer Minikes, Arthur P. Hays, Sara Shanske, Seiichi Tsujino, Salvatore DiMauro

Journal:

Année:

2006

Langue:

english

Fichier:

PDF, 173 KB

english, 2006

16

Phosphoglycerate kinase deficiency myopathy: Biochemical and immunological studies of the mutant enzyme

Dr. Nereo Bresolin, Dr. Armand Miranda, Dr. Hai Won Chang, Dr. Sara Shanske, Dr. Salvatore DiMauro

Journal:

Année:

1984

Langue:

english

Fichier:

PDF, 888 KB

english, 1984

17

Targeting of lysosomal enzymes: N-Acetylglucosamine-1-Phosphotransferase during muscle development

Halina Den, Sara Shanske, Salvatore Dimauro

Journal:

Année:

1986

Langue:

english

Fichier:

PDF, 406 KB

english, 1986

18

Myophosphorylase deficiency associated with rhabdomyolysis and exercise intolerance in 6 related charolais cattle

Dr. S. Angelos, Dr. S. J. Valberg, Dr. B. P. Smith, Mr. P. S. McQuarrie, Dr. S. Shanske, Dr. S. Tsujino, Dr. S. DiMauro, Dr. G. H. Cardinet III

Journal:

Année:

1995

Langue:

english

Fichier:

PDF, 524 KB

english, 1995

19

The molecular genetic basis of myophosphorylase deficiency (McArdle's disease)

Dr. Seiichi Tsujino, Dr. Sara Shanske, Dr. Ikuya Nonaka, Dr. Salvatore DiMauro

Journal:

Année:

1995

Langue:

english

Fichier:

PDF, 455 KB

english, 1995

20

Molecular genetic heterogeneity of phosphoglycerate kinase (PGK) deficiency

Seiichi Tsujino, Sara Shanske, Salvatore DiMauro

Journal:

Année:

1995

Langue:

english

Fichier:

PDF, 398 KB

english, 1995

21

Molecular genetic studies in muscle phosphoglycerate mutase (PGAM-M) deficiency

Dr. Seiichi Tsujino, Dr. Sara Shanske, Dr. Saburo Sakoda, Dr. Antonio Toscano, Dr. Salvatore DiMauro

Journal:

Année:

1995

Langue:

english

Fichier:

PDF, 357 KB

english, 1995

22

Proposed guidelines for diagnosis of chromosome mosaicism in amniocytes based on data derived from chromosome mosaicism and pseudomosaicism studies

Lillian Y. F. Hsu, Sara Kaffe, Edmund C. Jenkins, Lita Alonso, Peter A. Benn, Karen David, Kurt Hirschhorn, Ernest Lieber, Alan Shanske, Lawrence R. Shapiro, Edward Schutta, Dorothy Warburton

Journal:

Prenatal Diagnosis

Année:

1992

Langue:

english

Fichier:

PDF, 1.07 MB

english, 1992

23

Diprosopus: A unique case and review of the literature

June Wu, David A. Staffenberg, John B. Mulliken, Alan L. Shanske

Journal:

Birth Defects Research Part A: Clinical and Molecular Teratology

Année:

2002

Langue:

english

Fichier:

PDF, 200 KB

english, 2002

24

Joubert Syndrome 2 (JBTS2) in Ashkenazi Jews Is Associated with a TMEM216 Mutation

Simon Edvardson, Avraham Shaag, Shamir Zenvirt, Yaniv Erlich, Gregory J. Hannon, Alan L. Shanske, John Moshe Gomori, Joseph Ekstein, Orly Elpeleg

Journal:

The American Journal of Human Genetics

Année:

2010

Langue:

english

Fichier:

PDF, 251 KB

english, 2010

25

Joubert Syndrome 2 (JBTS2) in Ashkenazi Jews Is Associated with a TMEM216 Mutation

Simon Edvardson, Avraham Shaag, Shamir Zenvirt, Yaniv Erlich, Gregory J. Hannon, Alan L. Shanske, John Moshe Gomori, Joseph Ekstein, Orly Elpeleg

Journal:

The American Journal of Human Genetics

Année:

2010

Langue:

english

Fichier:

PDF, 27 KB

english, 2010

26

Molecular analysis for mitochondrial DNA disorders

Sara Shanske, Lee-Jun C. Wong

Journal:

Année:

2004

Langue:

english

Fichier:

PDF, 313 KB

english, 2004

27

Atypical clinical presentations associated with the MELAS mutation at position 3243 of human mitochondrial DNA

Moraes, Carlos T., Ciacci, Federica, Silvestri, Gabriella, Shanske, Sara, Sciacco, Monica, Hirano, Michio, Schon, Eric A., Bonilla, Eduardo, DiMauro, Salvatore

Journal:

Neuromuscular Disorders

Année:

1993

Langue:

english

Fichier:

PDF, 678 KB

english, 1993

28

Mitochondrial etiologies of chronic pseudo-obstruction and dysmotility in children: A 10year follow-up study

Goldstein, Amy, Bay, Carolyn, Sowry, Ellen, McDonald, Lee-Ann, DelVecchio, Maria, Vento, Jodie, Shanske, Sara, Hirano, Michio, DiLorenzo, Carlo

Journal:

Année:

2013

Langue:

english

Fichier:

PDF, 71 KB

english, 2013

29

Depletion of muscle mitochondrial DNA in AIDS patients with zidovudine-induced myopathy

Arnaudo, E., Shanske, S., DiMauro, S., Schon, E.A., Moraes, C.T., Schon, E.A., Dalakas, M.

Journal:

Année:

1991

Langue:

english

Fichier:

PDF, 483 KB

english, 1991

30

Exercise Intolerance Due to Mutations in the Cytochrome b Gene of Mitochondrial DNA

Andreu, Antoni L., Hanna, Michael G., Reichmann, Heinz, Bruno, Claudio, Penn, Audrey S., Tanji, Kurenai, Pallotti, Francesco, Iwata, So, Bonilla, Eduardo, Lach, Boleslaw, Morgan-Hughes, John, Shanske,

Journal:

Boston Medical and Surgical Journal

Année:

1999

Langue:

english

Fichier:

PDF, 247 KB

english, 1999

31

Clinical and Genetic Features in Two Families With MELAS and the T3271C Mutation in Mitochondrial DNA

Tay, S. K. H., Shanske, S., Crowe, C., Shanske, A., Schafer, I., Pancrudo, J., Jiesheng Lu,, Bonilla, E., DiMauro, S.

Journal:

Journal of Child Neurology

Année:

2005

Langue:

english

Fichier:

PDF, 322 KB

english, 2005

32

Revitalizing Aristotle's Doctrine of Equity

Journal:

Law Culture and the Humanities

Année:

2008

Langue:

english

Fichier:

PDF, 185 KB

english, 2008

33

Aberrant splicing in adult onset glycogen storage disease type II (GSDII): molecular identification of an IVS1 (– 13T→G) mutation in a majority of patients and a novel IVS10 (+ 1GT → CT) mutation

Hule, M.L., Chen, A.S., Tsujino, S., Shanske, S., DiMauro, S., Engel, A.G., Hirschhorn, R.

Journal:

Human Molecular Genetics

Année:

1994

Langue:

english

Fichier:

PDF, 1.21 MB

english, 1994

34

The G13513A Mutation in the ND5 Gene of Mitochondrial DNA as a Common Cause of MELAS or Leigh Syndrome

Année:

2008

Langue:

english

Fichier:

PDF, 241 KB

english, 2008

35

Care coordination in pediatric health care settings: the critical role of social work

Ross, Abigail, Arnold, Janis, Gormley, Allyson, Locke, Susanna, Shanske, Susan, Tardiff, Christine

Journal:

Social Work in Health Care

Année:

2019

Fichier:

PDF, 1.21 MB

2019

36

The Marshall syndrome: Report of a new family and review of the literature

Shanske, Alan L., Bogdanow, Anna, Shprintzen, Robert J., Marion, Robert W.

Journal:

American Journal of Medical Genetics

Année:

1997

Langue:

english

Fichier:

PDF, 656 KB

english, 1997

37

Central nervous system anomalies in Seckel syndrome: Report of a new family and review of the literature

Shanske, Alan, Caride, Diana G., Menasse-Palmer, Lisa, Bogdanow, Anna, Marion, Robert W.

Journal:

American Journal of Medical Genetics

Année:

1997

Langue:

english

Fichier:

PDF, 626 KB

english, 1997

38

High proportions of mtDNA duplications in patients with Kearns-Sayre syndrome occur in the heart

Fromenty, Bernard, Carrozzo, Rosalba, Shanske, Sara, Schon, Eric A.

Journal:

American Journal of Medical Genetics

Année:

1997

Langue:

english

Fichier:

PDF, 668 KB

english, 1997

39

Central nervous system anomalies in Seckel syndrome: Report of a new family and review of the literature

Shanske, Alan, Marion, Robert

Journal:

American Journal of Medical Genetics

Année:

1998

Langue:

english

Fichier:

PDF, 21 KB

english, 1998

40

Normal adaptive function with learning disability in duplication 8p including band p22

Brooks, Susan Sklower, Genovese, Marilyn, Gu, Hong, Duncan, Charlotte J., Shanske, Alan, Jenkins, Edmund C.

Journal:

American Journal of Medical Genetics

Année:

1998

Langue:

english

Fichier:

PDF, 317 KB

english, 1998

41

An adult with 49,XYYYY karyotype: Case report and endocrine studies

Shanske, Alan, Sachmechi, Issac, Patel, Dinesh K., Bishnoi, Alka, Rosner, Fred

Journal:

American Journal of Medical Genetics

Année:

1998

Langue:

english

Fichier:

PDF, 102 KB

english, 1998

42

Deletion of the pseudoautosomal region in a male with a unique Y;13 translocation and short stature

Shanske, Alan, Ellison, Jay, Vuguin, Pat, Dowling, Pat, Wasserman, Eitan, Heinrich, Juan, Saenger, Paul

Journal:

American Journal of Medical Genetics

Année:

1999

Langue:

english

Fichier:

PDF, 587 KB

english, 1999

43

Two cases of prenatal analysis for the pathogenic T to G substitution at nucleotide 8993 in mitochondrial DNA

Sarah L. White, Sara Shanske, Ivan Biros, Linda Warwick, Henrik M. Dahl, David R. Thorburn, Salvatore Di Mauro

Journal:

Prenatal Diagnosis

Année:

1999

Langue:

english

Fichier:

PDF, 83 KB

english, 1999

44

Identification of a mutation in the mitochondrial tRNACys gene associated with mitochondrial encephalopathy

Giovanni Manfredi, Eric A. Schon, Eduardo Bonilla, Carlos T. Moraes, Sara Shanske, Salvatore DiMauro

Journal:

Année:

1996

Langue:

english

Fichier:

PDF, 525 KB

english, 1996

45

Subtle radiographic findings of achondroplasia in patients with Crouzon syndrome with acanthosis nigricans due to an Ala391Glu substitution in FGFR3

Daniela N. Schweitzer, John M. Graham Jr., Ralph S. Lachman, Ethylin Wang Jabs, Kazuki Okajima, Kelly A. Przylepa, Alan Shanske, Kelly Chen, Julie A. Neidich, William R. Wilcox

Journal:

American Journal of Medical Genetics Part A

Année:

2001

Langue:

english

Fichier:

PDF, 888 KB

english, 2001

46

A nonsense mutation (G15059A) in the cytochrome b gene in a patient with exercise intolerance and myoglobinuria

A. L. Andreu, C. Bruno, T. C. Dunne, K. Tanji, S. Shanske, C. M. Sue, S. Krishna, G. M. Hadjigeorgiou, A. Shtilbans, E. Bonilla, S. DiMauro

Journal:

Annals of Neurology

Année:

1999

Langue:

english

Fichier:

PDF, 3.49 MB

english, 1999

47

Exercise intolerance due to a nonsense mutation in the mtDNA ND4 gene

A. L. Andreu, K. Tanji, C. Bruno, G. M. Hadjigeorgiou, C. M. Sue, C. Jay, T. Ohnishi, S. Shanske, E. Bonilla, S. DiMauro

Journal:

Annals of Neurology

Année:

1999

Langue:

english

Fichier:

PDF, 1.38 MB

english, 1999

48

Differential features of patients with mutations in two COX assembly genes, SURF-1 and SCO2

C. M. Sue, C. Karadimas, N. Checcarelli, K. Tanji, L. C. Papadopoulou, F. Pallotti, F. L. Guo, S. Shanske, M. Hirano, D. C. De Vivo, R. Van Coster, P. Kaplan, E. Bonilla, S. DiMauro

Journal:

Annals of Neurology

Année:

2000

Langue:

english

Fichier:

PDF, 975 KB

english, 2000

49

Mosaic trisomy of a small r(1) with an abnormal phenotype

Alan L. Shanske, Robert W. Marion

Journal:

American Journal of Medical Genetics Part A

Année:

2002

Langue:

english

Fichier:

PDF, 25 KB

english, 2002

50

Craniofacial, limb, and abdominal anomalies in a distinct syndrome: Relation to the spectrum of Pfeiffer syndrome type 3

Dr. Constance M. Barone, Robert Marion, Alan Shanske, Ravelo V. Argamaso, Robert J. Shprintzen

Journal:

American Journal of Medical Genetics Part A

Année:

1993

Langue:

english

Fichier:

PDF, 2.03 MB

english, 1993