SCHIMKE, NEIL R.: search on Z-Library

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1

Clinical and molecular delineation of the Greig cephalopolysyndactyly contiguous gene deletion syndrome and its distinction from acrocallosal syndrome

Jennifer J. Johnston, Isabelle Olivos-Glander, Joyce Turner, Kyrieckos Aleck, Lynne M. Bird, Lakshmi Mehta, R. Neil Schimke, Heidi Heilstedt, J. Edward Spence, Jan Blancato, Leslie G. Biesecker

Journal:

American Journal of Medical Genetics Part A

Year:

2003

Language:

english

File:

PDF, 202 KB

english, 2003

2

IMMUNOGLOBULINS IN CONGENITAL HYPOGAMMAGLOBULINÆMIA

Kirkpatrick, CharlesH., Neil Schimke, R.

Journal:

Year:

1968

Language:

english

File:

PDF, 173 KB

english, 1968

3

Monozygotic twins with the Turner syndrome

Riekhof, Paul L., Horton, William A., Harris, David J., Schimke, R.Neil

Journal:

American Journal of Obstetrics and Gynecology

Year:

1972

Language:

english

File:

PDF, 284 KB

english, 1972

4

Breast Cancer in Males—A Genetic Consideration

Stephens, Ronald L., Schimke, R. Neil

Journal:

The American Journal of the Medical Sciences

Year:

1992

Language:

english

File:

PDF, 1.78 MB

english, 1992

5

Proximal 3p deletion in renal cell carcinoma cells from a patient with von Hippel-Lindau disease

Charles R. King, R.Neil Schimke, Terry Arthur, Barbara Davoren, Debra Collins

Journal:

Cancer Genetics and Cytogenetics

Year:

1987

Language:

english

File:

PDF, 220 KB

english, 1987

6

Hereditary urogenital adysplasia

R. Neil Schimke, Charles R. King

Journal:

Clinical Genetics

Year:

1980

Language:

english

File:

PDF, 248 KB

english, 1980

7

The Roberts syndrome

Mahlon V. R. Freeman, Derek W. Williams, R. Neil Schimke, Samia A. Temtamy, Eduardo Vachier, James German

Journal:

Clinical Genetics

Year:

1974

Language:

english

File:

PDF, 1.16 MB

english, 1974

8

Hyperthyroidism

Schimke, R. Neil

Journal:

Postgraduate Medicine

Year:

1992

Language:

english

File:

PDF, 1.21 MB

english, 1992

9

Hypomandibular faciocranial dysostosis: Report of an affected sib and follow-up

R. Neil Schimke, Katherine S. Claflin, John H. Seguin, Timothy L. Bennett, Brent E. Finley, Lenna M. Levitch, Ward M. Newcomb

Journal:

American Journal of Medical Genetics Part A

Year:

1991

Language:

english

File:

PDF, 273 KB

english, 1991

10

Metabolic Diseases

Schimke, R. Neil

Journal:

Hospital Practice

Year:

1983

Language:

english

File:

PDF, 1.43 MB

english, 1983

11

Functioning carotid paraganglioma in the von Hippel-Lindau syndrome

Schimke, R. Neil, Collins, Debra L., Rothberg, Paul G.

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 29 KB

english, 1998

12

Osteopetrosis: Further heterogeneity

William A. Horton, R. Neil Schimke, Tina Iyama

Journal:

The Journal of Pediatrics

Year:

1980

Language:

english

File:

PDF, 3.97 MB

english, 1980

13

Symposium Clinical Delineation of Birth Defects

R. Neil Schimke

Journal:

Clinical Genetics

Year:

1975

File:

PDF, 27 KB

1975

14

Androblastomas and Thyroid Disease in Postmenopausal Sisters

WHITCOMB, RANDALL W., CALKINS, JOHN W., LUKERT, BARBARA P., KYNER, JOSEPH L., SCHIMKE, NEIL R.

Journal:

Obstetrics & Gynecology

Year:

1986

File:

PDF, 1.93 MB

1986

15

Persistent Mullerian duct syndrome: Report of two boys with associated crossed testicular ectopia

El-Sayed H. Mahfouz, Mohammed A. Issa, Talaat I. Farag, Kamal K. Naguib, Sadika A. Al-Awadi, R. Neil Schimke

Journal:

Journal of Pediatric Surgery

Year:

1990

Language:

english

File:

PDF, 207 KB

english, 1990

16

Calcinosis, Raynaud's Phenomenon, Sclerodactyly, and Telangiectasia

Schimke, R. Neil

Journal:

Archives of Internal Medicine

Year:

1967

Language:

english

File:

PDF, 3.95 MB

english, 1967

17

Homocystinuria

Schimke, R. Neil

Journal:

JAMA The Journal of the American Medical Association

Year:

1965

Language:

english

File:

PDF, 20.03 MB

english, 1965

18

Cimetidine in the management of synchronous crises of MEA I

Stanley R. Friesen, Arlo S. Hermreck, Charles E. Brackett, R. Neil Schimke

Journal:

World Journal of Surgery

Year:

1980

Language:

english

File:

PDF, 922 KB

english, 1980

19

Upper-limb cardiovascular syndrome: A family study∗

Helen Starke, R.Neil Schimke, Marvin Dunn

Journal:

The American Journal of Cardiology

Year:

1967

Language:

english

File:

PDF, 985 KB

english, 1967

20

Choriocarcinoma, thyrotoxicosis, and the klinefelter syndrome

R. Neil Schimke, Coleen M. Madigan, Bradd J. Silver, Carol J. Fabian, Ronald L. Stephens

Journal:

Cancer Genetics and Cytogenetics

Year:

1983

Language:

english

File:

PDF, 408 KB

english, 1983

21

ROUSSY-LÉVY SYNDROME: REPORT OF A KINDRED AND DISCUSSION OF THE NOSOLOGY

Ron Oelschlager, Harry H. White, R. Neil Schimke

Journal:

Acta Neurologica Scandinavica

Year:

1971

Language:

english

File:

PDF, 542 KB

english, 1971

22

Moebius syndrome in a child and extremity defect in her father

Debra L. Collins, R. Neil Schimke

Journal:

Clinical Genetics

Year:

1982

Language:

english

File:

PDF, 201 KB

english, 1982

23

Familial extragonadal germ cell tumors

Dr. R. Neil Schimke

Journal:

American Journal of Medical Genetics Part A

Year:

1983

Language:

english

File:

PDF, 141 KB

english, 1983

24

Endocrine studies in a male patient with choriocarcinoma and gynecomastia

Randall W. Whitcomb, R.Neil Schimke, Joseph L. Kyner, Barbara P. Lukert, Donald C. Johnson

Journal:

The American Journal of Medicine

Year:

1986

Language:

english

File:

PDF, 1.23 MB

english, 1986

25

Low-Methionine Diet Treatment of Homocystinuria

SCHIMKE, R. NEIL

Journal:

Annals of Internal Medicine

Year:

1969

Language:

english

File:

PDF, 199 KB

english, 1969

26

Ehlers-Danlos syndrome: a new oculo-scoliotic type with associated polyneuropathy?

Talaat I. Farag, R. Neil Schimke

Journal:

Clinical Genetics

Year:

1989

Language:

english

File:

PDF, 372 KB

english, 1989

27

XY sex-reversed campomelia - possibly an X-linked disorder?

R. Neil Schimke

Journal:

Clinical Genetics

Year:

1979

Language:

english

File:

PDF, 122 KB

english, 1979

28

Immunoregulation Abnormalities in Familial Addison's Disease*

FAIRCHILD, RICHARD S., SCHIMKE, R. NEIL, ABDOU, NABIH I.

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

1980

Language:

english

File:

PDF, 525 KB

english, 1980

29

Extragonadal germ cell tumors in brothers

D'Silva, Stany A., Williamson, Stephan K., Schimke, R. Neil

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 32 KB

english, 1999

30

Multiple endocrine neoplasia: How many syndromes?

R. Neil Schimke

Journal:

American Journal of Medical Genetics Part A

Year:

1990

Language:

english

File:

PDF, 1.11 MB

english, 1990

31

CHONDROITIN-6-SULPHATURIA, DEFECTIVE CELLULAR IMMUNITY, AND NEPHROTIC SYNDROME

Schimke, R.Neil, Horton, WilliamA., King, CharlesR.

Journal:

Year:

1971

Language:

english

File:

PDF, 461 KB

english, 1971

32

Carpal tunnel syndrome in pediatric mucopolysaccharidoses

Miner, Michael E., Schimke, R. Neil

Journal:

Journal of Neurosurgery

Year:

1975

Language:

english

File:

PDF, 270 KB

english, 1975

33

Syndrome of Bilateral Pheochromocytoma, Medullary Thyroid Carcinoma and Multiple Neuromas

Schimke, R. Neil, Hartmann, William H., Prout, Thaddeus E., Rimoin, David L.

Journal:

Boston Medical and Surgical Journal

Year:

1968

Language:

english

File:

PDF, 8.05 MB

english, 1968

34

AN UNUSUAL SELLAR MASS--SOLITARY PLASMACYTOMA

Mandagere, MD, Kelly A., Schimke, MD, FACP, R. Neil, Kyner, MD, FACP, FACE, Joseph L., Bhatia, MD, Paramjit S.

Journal:

Endocrine Practice

Year:

1998

Language:

english

File:

PDF, 61 KB

english, 1998

35

The “Pink Spot” in Schizophrenics and its Absence in Homocystinurics

Welch, J. Philip, Clower, Courtney G., Schimke, R. Neil

Journal:

The British Journal of Psychiatry

Year:

1969

Language:

english

File:

PDF, 692 KB

english, 1969

36

Retinoblastoma and osteogenic sarcoma in siblings

R. Neil Schimke, James T. Lowman, George A. B. Cowan

Journal:

Year:

1974

Language:

english

File:

PDF, 253 KB

english, 1974

37

Regarding cancer predisposition detected by CHG arrays

Collins, Debra L., Schimke, R. Neil

Journal:

Genetics in Medicine

Year:

2011

File:

PDF, 78 KB

2011

38

Two distinct phenotypes caused by two different missense mutations in the same codon of the VHL gene

Bradley, John F., Collins, Debra L., Schimke, R. Neil, Parrott, Heather N., Rothberg, Paul G.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 248 KB

english, 1999

39

Glycogen storage disease type IX: Benign glycogenosis of liver and hepatic phosphorylase kinase deficiency

R. Neil Schimke, Richard M. Zakheim, Robert C. Corder, George Hug

Journal:

The Journal of Pediatrics

Year:

1973

Language:

english

File:

PDF, 304 KB

english, 1973

40

Genetic Aspects of the Z-E Syndrome

FRISEN, STANLEY R., SCHIMKE, R. NEIL, PEARSE, A. G. E.

Journal:

Annals of Surgery

Year:

1972

File:

PDF, 2.28 MB

1972

41

Adult-onset hereditary cerebellar ataxia and neurosensory deafness

R. Neil Schimke

Journal:

Clinical Genetics

Year:

1974

Language:

english

File:

PDF, 372 KB

english, 1974

42

Immunologic Deficiency in the Congenital Rubella Syndrome

Schimke, R. Neil

Journal:

Archives of Pediatrics and Adolescent Medicine

Year:

1969

Language:

english

File:

PDF, 4.05 MB

english, 1969

43

Clinical differentiation between proteus syndrome and hemihyperplasia: Description of a distinct form of hemihyperplasia

Biesecker, Leslie G., Peters, Kathryn F., Darling, Thomas N., Choyke, Peter, Hill, Suvimol, Schimke, Neil, Cunningham, Michael, Meltzer, Paul, Cohen, M. Michael

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 585 KB

english, 1998

44

Familial acute myelogenous leukemia with associated c-monosomy in two affected members

William E. Larsen, R. Neil Schimke

Journal:

Year:

1976

Language:

english

File:

PDF, 684 KB

english, 1976

45

Familial joint instability syndrome

William A. Horton, Debra L. Collins, Arthur A. DeSmet, James A. Kennedy, R. Neil Schimke, John M. Opitz

Journal:

American Journal of Medical Genetics Part A

Year:

1980

Language:

english

File:

PDF, 368 KB

english, 1980

46

Reply

W.A. Horton, R. Neil Schimke

Journal:

The Journal of Pediatrics

Year:

1971

Language:

english

File:

PDF, 177 KB

english, 1971

47

A new mucopolysaccharidosis

William A. Horton, R. Neil Schimke

Journal:

The Journal of Pediatrics

Year:

1970

Language:

english

File:

PDF, 2.14 MB

english, 1970

48

Paraganglioma, neuroblastoma, and a SDHB mutation: Resolution of a 30-year-old mystery

R. Neil Schimke, Debra L. Collins, Catherine A. Stolle

Journal:

American Journal of Medical Genetics Part A

Year:

2010

Language:

english

File:

PDF, 120 KB

english, 2010

49

A Prospective Study on Von Hippel-Lindau Disease

Richards, Robert D., Mebust, Winston K., Schimke, R. Neil

Journal:

The Journal of Urology

Year:

1973

Language:

english

File:

PDF, 189 KB

english, 1973

50

Hereditary Renal-Retinal Dysplasia

SCHIMKE, R. NEIL

Journal:

Annals of Internal Medicine

Year:

1969

Language:

english

File:

PDF, 1.79 MB

english, 1969

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