Eiklid, Kristin L.: search on Z-Library

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1

Two new Rett syndrome families and review of the literature: expanding the knowledge ofMECP2frameshift mutations

Kirstine Ravn, Gitte Roende, Morten Duno, Kathrine Fuglsang, Kristin L Eiklid, Zeynep Tümer, Jytte B Nielsen, Ola H Skjeldal

Journal:

Orphanet Journal of Rare Diseases

Year:

2011

Language:

english

File:

PDF, 338 KB

english, 2011

2

Properties and action mechanism of the toxic lectin modeccin: Interaction with cell lines resistant to modeccin, abrin, and ricin

Sjur Olsnes, Kirsten Sandvig, Kristin Eiklid, Alexander Pihl

Journal:

Journal of Cellular Biochemistry

Year:

1978

Language:

english

File:

PDF, 604 KB

english, 1978

3

Copy number variation findings among 50 children and adolescents with autism spectrum disorder

Sorte, Hanne S., Gjevik, Elen, Sponheim, Eili, Eiklid, Kristin L., Rødningen, Olaug K.

Journal:

Psychiatric Genetics

Year:

2013

Language:

english

File:

PDF, 461 KB

english, 2013

4

Frequency of the ΔF508 and exon 11 mutations in Norwegian cystic fibrosis patients

Kristin Eiklid, Lisbeth Tranebjærg, Hans G. Eiken, Jan C. Pedersen, Helge Michalsen, Gjermund Fluge, Marianne Schwartz, Bjørn R. Nilsen, Roald Bolle, Dag Skyberg, Helge Boman, Kare Berg

Journal:

Clinical Genetics

Year:

1993

Language:

english

File:

PDF, 201 KB

english, 1993

5

394delTT: a Nordic cystic fibrosis mutation

Marianne Schwartz, Maria Anvret, Mireille Claustres, Hans Geir Eiken, Kristin Eiklid, Charlotte Schaedel, Lisa Stolpe, Lisbeth Tranebjærg

Journal:

Year:

1994

Language:

english

File:

PDF, 624 KB

english, 1994

6

Characterization of a Norwegian cherubism cohort; molecular genetic findings, oral manifestations and quality of life

Prescott, Trine, Redfors, Maria, Rustad, Cecilie Fremstad, Eiklid, Kristin Louise, Geirdal, Amy Østertun, Storhaug, Kari, Jensen, Janicke Liaaen

Journal:

European Journal of Medical Genetics

Year:

2013

Language:

english

File:

PDF, 350 KB

english, 2013

7

Age-dependent clinical problems in a Norwegian national survey of patients with the 22q11.2 deletion syndrome

Kari Lima, Ivar Følling, Kristin L. Eiklid, Solveig Natvig, Tore G. Abrahamsen

Journal:

European Journal of Pediatrics

Year:

2010

Language:

english

File:

PDF, 139 KB

english, 2010

8

Association between ApoE &epsi;4 and Cognitive Impairment after Stroke

Wagle, J&oslash, rgen, Farner, Lasse, Flekk&oslash, y, Kjell, Wyller, Torgeir Bruun, Sandvik, Leiv, Eiklid, Kristin L., Fure, Brynjar, Stensr&oslash, d, Brynhild, Engedal, Knut

Journal:

Dementia and Geriatric Cognitive Disorders

Year:

2009

Language:

english

File:

PDF, 169 KB

english, 2009

9

CFTR gene mutations and asthma in the Norwegian Environment and Childhood Asthma study

Monica Cheng Munthe-Kaas, Karin C. Lødrup Carlsen, Kai-Håkon Carlsen, Beate Skinningsrud, Geir Håland, Chandra Sekhar Devulapalli, Morten Pettersen, Kristin Eiklid

Journal:

Respiratory Medicine

Year:

2006

Language:

english

File:

PDF, 151 KB

english, 2006

10

Entry of lethal doses of abrin, ricin and modeccin into the cytosol of HeLa cells

Kristin Eiklid, Sjur Olsnes, Alexander Pihl

Journal:

Experimental Cell Research

Year:

1980

Language:

english

File:

PDF, 842 KB

english, 1980

11

A 5.8kb deletion removing the entire MNX1 gene in a Norwegian family with Currarino syndrome

Holm, Ingunn, Monclair, Tom, Lundar, Tryggve, Stadheim, Barbro, Prescott, Trine E., Eiklid, Kristin L.

Journal:

Year:

2013

Language:

english

File:

PDF, 533 KB

english, 2013

12

Whole exome sequencing of sporadic patients with Currarino Syndrome: A report of three trios

Holm, Ingunn, Spildrejorde, Mari, Stadheim, Barbro, Eiklid, Kristin L., Samarakoon, Pubudu S.

Journal:

Year:

2017

Language:

english

File:

PDF, 663 KB

english, 2017

13

Inheritance of skewed X chromosome inactivation in a large family with an X-linked recessive deafness syndrome

Ørstavik, Karen Helene, Elise Ørstavik, Ragnhild, Eiklid, Kristin, Tranebjærg, Lisbeth

Journal:

American Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 412 KB

english, 1996

14

Carnitine uptake into human heart cells in culture

T. Böhmer, Kristin Eiklid, J. Jonsen

Journal:

Biochimica et Biophysica Acta (BBA) - Biomembranes

Year:

1977

Language:

english

File:

PDF, 400 KB

english, 1977

15

CARNITINE DEFICIENCY INDUCED DURING INTERMITTENT HÆMODIALYSIS FOR RENAL FAILURE

Bohmer, Thomas, Bergrem, Harald, Eiklid, Kristin

Journal:

Year:

1978

Language:

english

File:

PDF, 576 KB

english, 1978

16

SLC9A6 Mutations Cause X-Linked Mental Retardation, Microcephaly, Epilepsy, and Ataxia, a Phenotype Mimicking Angelman Syndrome

Gregor D. Gilfillan, Kaja K. Selmer, Ingrid Roxrud, Raffaella Smith, Mårten Kyllerman, Kristin Eiklid, Mette Kroken, Morten Mattingsdal, Thore Egeland, Harald Stenmark, Hans Sjøholm, Andres Server, Le

Journal:

The American Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 801 KB

english, 2008

17

Novel splicing mutation in the NEMO (IKK-gamma) gene with severe immunodeficiency and heterogeneity of X-chromosome inactivation

Karen Helene Ørstavik, Marianne Kristiansen, Gun Peggy Knudsen, Kari Storhaug, Åshild Vege, Kristin Eiklid, Tore G Abrahamsen, Asma Smahi, Jon Steen-Johnsen

Journal:

American Journal of Medical Genetics Part A

Year:

2006

Language:

english

File:

PDF, 348 KB

english, 2006

18

Specificity and characteristics of the carnitine transport in human heart cells (CCL 27) in culture

Per Mølstad, Thomas Bøhmer, Kristin Eiklid

Journal:

Biochimica et Biophysica Acta (BBA) - Biomembranes

Year:

1977

Language:

english

File:

PDF, 435 KB

english, 1977

19

Non-random X chromosome inactivation in an affected twin in a monozygotic twin pair discordant for Wiedemann-Beckwith syndrome

Ragnhild Eliseörstavik, Niels Tommerup, Kristin Eiklid, Karen Heleneörstavik

Journal:

American Journal of Medical Genetics Part A

Year:

1995

Language:

english

File:

PDF, 551 KB

english, 1995

20

Fanconi anaemia, BRCA2 and familial considerations – follow up on a previous case report

Trine Levin Bodd, Marijke Van Ghelue, Kristin Eiklid, Ellen Ruud, Pål Møller, Lovise Mæhle

Journal:

Acta Paediatrica

Year:

2010

Language:

english

File:

PDF, 160 KB

english, 2010

21

Mapping of the Locus for Cholestasis-Lymphedema Syndrome (Aagenaes Syndrome) to a 6.6-cM Interval on Chromosome 15q

Laura N. Bull, Erin Roche, Eyun J. Song, Jan Pedersen, A.S. Knisely, , C.B. van der Hagen, Kristin Eiklid, Øystein Aagenaes, Nelson B. Freimer

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 689 KB

english, 2000

22

Cognitive impairment and the role of the ApoE ε4-allele after stroke—a 13 months follow-up study

Jørgen Wagle, Lasse Farner, Kjell Flekkøy, Torgeir B. Wyller, Leiv Sandvik, Kristin L. Eiklid, Brynjar Fure, Brynhild Stensrød, Knut Engedal

Journal:

International Journal of Geriatric Psychiatry

Year:

2010

Language:

english

File:

PDF, 151 KB

english, 2010

23

ABCB4 sequence variations in young adults with cholesterol gallstone disease

Karl Esten Nakken, Knut Jørgen Labori, Olaug K. Rødningen, Sigve Nakken, Knut E. Berge, Kristin Eiklid, Morten G. Ræder

Journal:

Liver International

Year:

2009

Language:

english

File:

PDF, 89 KB

english, 2009

24

A novel BMPR2 gene mutation associated with exercise-induced pulmonary hypertension in septal defects

Möller, Thomas, Leren, Trond P., Eiklid, Kristin L., Holmstrøm, Henrik, Fredriksen, Per Morten, Thaulow, Erik

Journal:

Scandinavian Cardiovascular Journal

Year:

2010

Language:

english

File:

PDF, 71 KB

english, 2010

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