Arabella Smith: search on Z-Library

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

1

Ring chromosome 15 and 15qs+ mosaic: Clinical and cytogenetic behaviour spanning 29 years

Dr. Arabella Smith, Gesina den Dulk, Renate Viersbach, John Michas

Journal:

American Journal of Medical Genetics Part A

Year:

1991

Language:

english

File:

PDF, 392 KB

english, 1991

2

The Wolf-Hirschhorn syndrome in adulthood: Evaluation of a 24-year-old man with a rec(4) chromosome

Ogle, Robert, Sillence, David O., Merrick, Ann, Ell, Jonathan, Lo, Beehong, Robson, Lisa, Smith, Arabella

Journal:

American Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 397 KB

english, 1996

3

Inter-observer discrepancy in scoring signals on interphase fish with an X library probe illustrated in a case of 47, XXX

Lisa Robson, Arabella Smith

Journal:

Prenatal Diagnosis

Year:

1995

Language:

english

File:

PDF, 261 KB

english, 1995

4

Isochromosome 15 with behaviour disorder

Arabella Smith, S. Einfeld

Journal:

Year:

1986

Language:

english

File:

PDF, 211 KB

english, 1986

5

Abnormal dicentric chromosome with co-amplification of sequences from chromosomes 11 and 19: a novel rearrangement in a patient with myelodysplastic syndrome transforming to acute myeloid leukemia

Arabella Smith, Luke St. Heaps, Praveen Sharma, Angela Jarvis, Cecily Forsyth

Journal:

Cancer Genetics and Cytogenetics

Year:

2001

Language:

english

File:

PDF, 388 KB

english, 2001

6

Urine screening for aminoacidopathies: Is it beneficial?: Results of a long-term follow-up of cases detected by screening one million babies

Bridget Wilcken, Arabella Smith, D.A. Brown

Journal:

The Journal of Pediatrics

Year:

1980

Language:

english

File:

PDF, 523 KB

english, 1980

7

Duplication within chromosome 5q characterized by fluorescence in situ hybridization

Mowat, David, Jauch, Anna, Robson, Lisa, Smith, Arabella

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 255 KB

english, 1999

8

Brief communication: Frequency of 47,+21 in cells of blood cultures from couples with habitual spontaneous abortion

Dr. Arabella Smith, Margaret Cohen, Robin Murray

Journal:

American Journal of Medical Genetics Part A

Year:

1990

Language:

english

File:

PDF, 261 KB

english, 1990

9

Angelman syndrome: Genetic mechanisms and relationship to Prader-Willi syndrome 1

Smith, Arabella

Journal:

Journal of Intellectual & Developmental Disability

Year:

1994

Language:

english

File:

PDF, 519 KB

english, 1994

10

An infertile female with ring (X) chromosome constitution and evidence of ovulation

Smith, Arabella, Den Dulk, Gesina, Murray, Robin, Shale, Donald J

Journal:

Year:

1983

Language:

english

File:

PDF, 325 KB

english, 1983

11

Paucity of 47,XXX and 46,XX/47,XXX among routine diagnostic cytogenetic referrals

Smith, Arabella, Collis, Judith

Journal:

The Medical Journal of Australia

Year:

1983

File:

PDF, 548 KB

1983

12

SCREENING FOR METABOLIC DISEASES IN NEW SOUTH WALES

WILCKEN, BRIDGET, SMITH, ARABELLA, GAHA, T. J., MCLEAY, A. C., BROWN, D. A.

Journal:

The Medical Journal of Australia

Year:

1973

File:

PDF, 523 KB

1973

13

A girl with the Prader-Willi Syndrome and Robertsonian translocation 45,XX,t(14;15)(p11;q11) which was present in three normal family members

Arabella Smith, Michael Noel

Journal:

Year:

1980

Language:

english

File:

PDF, 586 KB

english, 1980

14

FOLLOW-UP OF CASE OF ADVANCED SURVIVAL AND TRISOMY 18

ARABELLA SMITH, GESIN A. M. DEN DULK

Journal:

Journal of Intellectual Disability Research

Year:

1980

Language:

english

File:

PDF, 113 KB

english, 1980

15

Methylation analysis at three different loci within the imprinted region of chromosome 15q11–13

Buchholz, Tina, Jackson, Julianne, Smith, Arabella

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 66 KB

english, 1997

16

ANEUPLOIDY IN CULTURE

ARABELLA SMITH, GAE ELLIOTT

Journal:

Journal of Intellectual Disability Research

Year:

1980

Language:

english

File:

PDF, 1.61 MB

english, 1980

17

Erratum: Postprandial metabolism in adults with prader-willi syndrome

Purtell, Louise, Viardot, Alexander, Sze, Lisa, Loughnan, Georgina, Steinbeck, Katharine, Sainsbury, Amanda, Herzog, Herbert, Smith, Arabella, Campbell, Lesley V.

Journal:

Year:

2016

Language:

english

File:

PDF, 78 KB

english, 2016

18

Chromosome fragility in Alzheimer's disease

Arabella Smith, G. A. Broe, Michael Williamson

Journal:

Clinical Genetics

Year:

1984

Language:

english

File:

PDF, 434 KB

english, 1984

19

Construction of a Global Pain Systems Network Highlights Phospholipid Signaling as a Regulator of Heat Nociception

Neely, G. Gregory, Rao, Shuan, Costigan, Michael, Mair, Norbert, Racz, Ildiko, Milinkeviciute, Giedre, Meixner, Arabella, Nayanala, Swetha, Griffin, Robert S., Belfer, Inna, Dai, Feng, Smith, Shad, Di

Journal:

Year:

2012

Language:

english

File:

PDF, 1013 KB

english, 2012

20

EVALUATION OF THE NITROPRUSSIDE TEST FOR THE DIAGNOSIS OF CYSTINURIA

Smith, Arabella

Journal:

The Medical Journal of Australia

Year:

1977

File:

PDF, 269 KB

1977

21

Regulatory T cell control of systemic immunity and immunotherapy response in liver metastasis

Lee, James C., Mehdizadeh, Sadaf, Smith, Jennifer, Young, Arabella, Mufazalov, Ilgiz A., Mowery, Cody T., Daud, Adil, Bluestone, Jeffrey A.

Journal:

Science Immunology

Year:

2020

File:

PDF, 1.55 MB

2020

22

Review of referrals for the FISH detection of Williams syndrome highlights the importance of testing in supravalvular aortic stenosis/pulmonary stenosis

Luke St. Heaps, Lisa Robson, Arabella Smith

Journal:

American Journal of Medical Genetics Part A

Year:

2001

Language:

english

File:

PDF, 159 KB

english, 2001

23

Comprehensive methylation analysis in typical and atypical PWS and AS patients with normal biparental chromosomes 15

Muscatelli, Françoise, Gillessen-Kaesbach, Gabriele, Runte, Maren, Färber, Claudia, Lich, Christina, Zeschnigk, Michael, Buchholz, Tina, Smith, Arabella, Van Maldergem, Lionel, Bürger, Joachim

Journal:

European Journal of Human Genetics

Year:

2001

Language:

english

File:

PDF, 270 KB

english, 2001

24

Unbalanced translocation t(15;22) in ‘severe’ Prader–Willi syndrome

Arabella Smith, Anna Jauch, Luke St Heaps, Lisa Robson, Brian Kearney

Journal:

Annales de Génétique

Year:

2000

Language:

english

File:

PDF, 531 KB

english, 2000

25

17p− Syndrome Arising from a Novel Dicentric Translocation in a Patient with Acute Myeloid Leukemia

Neville Watson, Lindsay Dunlop, Lisa Robson, Praveen Sharma, Arabella Smith

Journal:

Cancer Genetics and Cytogenetics

Year:

2000

Language:

english

File:

PDF, 215 KB

english, 2000

26

Mosaic rearrangement of chromosome 18: Characterization by FISH mapping and DNA studies shows trisomy 18p and monosomy 18p both of paternal origin

Oner, Guner, Jauch, Anna, Eggermann, Thomas, Hardwick, R., Kirsch, Stefan, Schiebel, Katrin, Rappold, Gudrun, Robson, Lisa, Smith, Arabella

Journal:

American Journal of Medical Genetics

Year:

2000

Language:

english

File:

PDF, 946 KB

english, 2000

27

Mucoepidermoid carcinoma of the bronchus in a 15-year-old girl with complex cytogenetic rearrangement involving 11q and over-expression of cyclin D1

Wade Barrett, Luke St. Heaps, Sara Diaz, Praveen Sharma, Susan Arbuckle, Arabella Smith

Journal:

Pediatric Blood & Cancer

Year:

2002

Language:

english

File:

PDF, 234 KB

english, 2002

28

UBE3A“mutations” in two unrelated and phenotypically different Angelman syndrome patients

David C. Y. Fung, Bing Yu, K. F. Cheong, Arabella Smith, R. J. Trent

Journal:

Year:

1998

Language:

english

File:

PDF, 125 KB

english, 1998

29

A Possible Genetic Variant of Homozygous Cystinuria

ARABELLA SMITH, A. BOGDAN

Journal:

BJU International

Year:

1983

Language:

english

File:

PDF, 126 KB

english, 1983

30

Three Siblings with Premature Gonadal Failure

Smith, Arabella, Fraser, Ian S., Noel, Michael

Journal:

Fertility and Sterility

Year:

1979

Language:

english

File:

PDF, 494 KB

english, 1979

31

INTERMITTENT 20q- AND CONSISTENT i(7q) IN A PATIENT WITH SHWACHMAN-DIAMOND SYNDROME

Smith, Arabella, Shaw, Peter J., Webster, Boyd, Lammi, Ahti, Gaskin, Kevin, Diaz, Sara, Sharma, Praveen

Journal:

Pediatric Hematology-Oncology

Year:

2002

Language:

english

File:

PDF, 129 KB

english, 2002

32

46,XY/47,XYY/48,XYYY karyotype in a 3-year-old boy ascertained because of radioulnar synostosis

Con James, Lisa Robson, Julianne Jackson, Dr. Arabella Smith

Journal:

American Journal of Medical Genetics Part A

Year:

1995

Language:

english

File:

PDF, 400 KB

english, 1995

33

Sequential cytogenetic studies in an ovarian cancer cell line

Arabella Smith, Caroline van Haaften-Day, Peter Russell

Journal:

Cancer Genetics and Cytogenetics

Year:

1989

Language:

english

File:

PDF, 561 KB

english, 1989

34

Dermatoglyphic analyses of 24 individuals with the prader willi syndrome (PWS)

Smith, Arabella, Simpson, Eunice

Journal:

Year:

1983

Language:

english

File:

PDF, 325 KB

english, 1983

35

Prenatal diagnosis and the Prader-Willi syndrome

Journal:

Year:

1986

Language:

english

File:

PDF, 57 KB

english, 1986

36

Diagnostic Testing for Prader-Willi and Angelman Syndromes: Response

Arabella Smith, Tina Buchholz, Lisa Robson

Journal:

The American Journal of Human Genetics

Year:

1997

Language:

english

File:

PDF, 76 KB

english, 1997

37

Translocation 46XY, t (17;18) (q25;q21) in a mentally retarded boy with progressive eye abnormalities

Arabella Smith, Verne Caradus, J. Graham Henry

Journal:

Clinical Genetics

Year:

1979

Language:

english

File:

PDF, 826 KB

english, 1979

38

Postprandial cardiac autonomic function in Prader-Willi syndrome

Purtell, Louise, Jenkins, Arthur, Viardot, Alexander, Herzog, Herbert, Sainsbury, Amanda, Smith, Arabella, Loughnan, Georgina, Steinbeck, Katharine, Campbell, Lesley V, Sze, Lisa

Journal:

Clinical Endocrinology

Year:

2013

Language:

english

File:

PDF, 200 KB

english, 2013

39

Mortality in Prader-Willi Syndrome

Einfeld, Stewart L., Kavanagh, Sophie J., Smith, Arabella, Evans, Elizabeth J., Tonge, Bruce J., Taffe, John

Journal:

American Journal on Intellectual and Developmental Disabilities

Year:

2006

Language:

english

File:

PDF, 141 KB

english, 2006

40

Genetic studies in male infertility

Smith, Arabella, Judzewitsch, Roman

Journal:

Year:

1981

Language:

english

File:

PDF, 236 KB

english, 1981

41

Three adults with acute lymphoblastic leukemia and dic(7;9)(p11.2;p11)

Arabella Smith, Praboth Das, John O'Reilly, Crisoula Patsouris, Lynda J. Campbell

Journal:

Cancer Genetics and Cytogenetics

Year:

2006

Language:

english

File:

PDF, 94 KB

english, 2006

42

Chromosome Findings in the Prader-Willi Syndrome

Smith, Arabella

Journal:

Journal of Intellectual & Developmental Disability

Year:

1986

Language:

english

File:

PDF, 908 KB

english, 1986

43

Radiation therapy-induced neuro-Sweet disease in a patient with oral squamous cell carcinoma

Wallett, Arabella, Newland, Kate, Foster-Smith, Erwin

Journal:

Australasian Journal of Dermatology

Year:

2016

Language:

english

File:

PDF, 463 KB

english, 2016

44

Paucity of 47,XXX and 46,XX/47,XXX among routine diagnostic cytogenetic referrals

Smith, Arabella, Colds, Judith

Journal:

The Medical Journal of Australia

Year:

1983

File:

PDF, 141 KB

1983

45

Recessive gonadal dysgenesis

Journal:

Clinical Genetics

Year:

1983

File:

PDF, 63 KB

1983

46

Longitudinal course of behavioural and emotional problems of young persons with Prader-Willi, Fragile X, Williams and Down syndromes

Einfeld, Stewart, Tonge, Bruce, Turner, Gillian, Parmenter, Trevor, Smith, Arabella

Journal:

Journal of Intellectual & Developmental Disability

Year:

1999

Language:

english

File:

PDF, 613 KB

english, 1999

47

Equine Induced Pluripotent Stem Cells have a Reduced Tendon Differentiation Capacity Compared to Embryonic Stem Cells

Bavin, Emma P., Smith, Olivia, Baird, Arabella E. G., Smith, Lawrence C., Guest, Deborah J.

Journal:

Frontiers in Veterinary Science

Year:

2015

Language:

english

File:

PDF, 12.68 MB

english, 2015

48

Syndromal obesity due to paternal duplication 6(q24.3-q27)

Smith, Arabella, Jauch, Anna, Slater, Howard, Robson, Lisa, Sandanam, Tyls

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 864 KB

english, 1999

49

A variety of genetic mechanisms are associated with the Prader–Willi syndrome

Dr. Trevor Woodage, Ze-Min Deng, Madhuri Prasad, Robert Smart, Robert Lindeman, Susan L. Christian, David H. Ledbetter, Lisa Robson, Arabella Smith, Ronald J. Trent

Journal:

American Journal of Medical Genetics Part A

Year:

1994

Language:

english

File:

PDF, 929 KB

english, 1994

50

Cytogenetic findings in cell lines derived from four ovarian carcinomas

Arabella Smith, Cynthia Roberts, Carolien van Haaften-Day, Gesina den Dulk, Peter Russell, Martin H.N. Tattersall

Journal:

Cancer Genetics and Cytogenetics

Year:

1987

Language:

english

File:

PDF, 866 KB

english, 1987

To build up a library is to create a life. It’s never just a random collection of books.

— Carlos María Domínguez

Official channel

Z-Library Desktop Launcher

Z-Library Since 2009 support@1delivery.pm

EnglishРусскийEspañolItalianoελληνικάاللغة العربيةBahasa IndonesiaBahasa Malaysiaहिन्दीDeutschFrançaisPortuguêsУкраїнськаPolski中文繁體中文日本語Tiếng ViệtAzərbaycan DiliՀայոց լեզուภาษาไทยTürk Diliქართველიবাংলাپښتوతెలుగుاردو한국어SrpskiБългарски