Mariet E Elting: search on Z-Library

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1

De novo variants in PAK1 lead to intellectual disability with macrocephaly and seizures

Horn, Susanne, Au, Margaret, Basel-Salmon, Lina, Bayrak-Toydemir, Pinar, Chapin, Alexander, Cohen, Lior, Elting, Mariet W, Graham, John M, Gonzaga-Jauregui, Claudia, Konen, Osnat, Holzer, Max, Lemke,

Journal:

Year:

2019

Language:

english

File:

PDF, 1.07 MB

english, 2019

2

Obesity, rather than menstrual cycle pattern or follicle cohort size, determines hyperinsulinaemia, dyslipidaemia and hypertension in ageing women with polycystic ovary syndrome

Mariet W. Elting, Ted J. M. Korsen, Joop Schoemaker

Journal:

Clinical Endocrinology

Year:

2001

Language:

english

File:

PDF, 110 KB

english, 2001

3

Prenatal ultrasound findings of rasopathies in a cohort of 424 fetuses: update on genetic testing in the NGS era

Stuurman, Kyra E, Joosten, Marieke, van der Burgt, Ineke, Elting, Mariet, Yntema, Helger G, Meijers-Heijboer, Hanne, Rinne, Tuula

Journal:

Journal of Medical Genetics

Year:

2019

Language:

english

File:

PDF, 444 KB

english, 2019

4

Genotype–Phenotype Correlation in DFNB8/10 Families withTMPRSS3Mutations

Nicole J. D. Weegerink, Margit Schraders, Jaap Oostrik, Patrick L. M. Huygen, Tim M. Strom, Susanne Granneman, Ronald J. E. Pennings, Hanka Venselaar, Lies H. Hoefsloot, Mariet Elting, Cor W. R. J. Cr

Journal:

Journal of the Association for Research in Otolaryngology

Year:

2011

Language:

english

File:

PDF, 1003 KB

english, 2011

5

De novo variants in PAK1 lead to intellectual disability with macrocephaly and seizures

Horn, Susanne, Au, Margaret, Basel-Salmon, Lina, Bayrak-Toydemir, Pinar, Chapin, Alexander, Cohen, Lior, Elting, Mariet W, Graham, John M, Gonzaga-Jauregui, Claudia, Konen, Osnat, Holzer, Max, Lemke,

Journal:

Year:

2019

File:

PDF, 1.07 MB

2019

6

Prenatal ultrasound findings of rasopathies in a cohort of 424 fetuses: update on genetic testing in the NGS era

Stuurman, Kyra E, Joosten, Marieke, van der Burgt, Ineke, Elting, Mariet, Yntema, Helger G, Meijers-Heijboer, Hanne, Rinne, Tuula

Journal:

Journal of Medical Genetics

Year:

2019

File:

PDF, 444 KB

2019

7

Reflecting on Earlier Experiences with Unsolicited Findings: Points to Consider for Next-Generation Sequencing and Informed Consent in Diagnostics

Rigter, Tessel, Henneman, Lidewij, Kristoffersson, Ulf, Hall, Alison, Yntema, Helger G., Borry, Pascal, Tönnies, Holger, Waisfisz, Quinten, Elting, Mariet W., Dondorp, Wybo J., Cornel, Martina C.

Journal:

Year:

2013

Language:

english

File:

PDF, 333 KB

english, 2013

8

Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum

Motta, Marialetizia, Pannone, Luca, Pantaleoni, Francesca, Bocchinfuso, Gianfranco, Radio, Francesca Clementina, Cecchetti, Serena, Ciolfi, Andrea, Di Rocco, Martina, Elting, Mariet W., Brilstra, Eva

Journal:

The American Journal of Human Genetics

Year:

2020

File:

PDF, 3.62 MB

2020

9

Johanson–Blizzard syndrome caused by identical UBR1 mutations in two unrelated girls, one with a cardiomyopathy

Mariet Elting, Ariana Kariminejad, Marie-Louise de Sonnaville, Jaap Ottenkamp, Susanne Bauhuber, Bita Bozorgmehr, Martin Zenker, Jan M. Cobben

Journal:

American Journal of Medical Genetics Part A

Year:

2008

Language:

english

File:

PDF, 128 KB

english, 2008

10

The Rise of Estradiol and Inhibin B after Acute Stimulation with Follicle-Stimulating Hormone Predict the Follicle Cohort Size in Women with Polycystic Ovary Syndrome, Regularly Menstruating Women with Polycystic Ovaries, and Regularly Menstruating Women with Normal Ovaries 1

Elting, Mariet W., Kwee, Janet, Schats, Roel, Rekers-Mombarg, Lyset T. M., Schoemaker, Joop

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

2001

Language:

english

File:

PDF, 151 KB

english, 2001

11

Toward clinical and molecular understanding of pathogenic variants in the ZBTB18 gene

van der Schoot, Vyne, de Munnik, Sonja, Venselaar, Hanka, Elting, Mariet, Mancini, Grazia M. S., Ravenswaaij-Arts, Conny M. A., Anderlid, Britt-Marie, Brunner, Han G., Stevens, Servi J. C.

Journal:

Molecular Genetics & Genomic Medicine

Year:

2018

Language:

english

File:

PDF, 1.24 MB

english, 2018

12

Two cases of RIT1 associated Noonan syndrome: Further delineation of the clinical phenotype and review of the literature

Milosavljević, Doris, Overwater, Eline, Tamminga, Saskia, de Boer, Karin, Elting, Mariet W., van Hoorn, Marion E., Rinne, Tuula, Houweling, Arjan C.

Journal:

American Journal of Medical Genetics Part A

Year:

2016

Language:

english

File:

PDF, 598 KB

english, 2016

13

Ovarian volume and antral follicle count for the prediction of low and hyper responders with in vitro fertilization

Janet Kwee, Mariet E Elting, Roel Schats, Joseph McDonnell, Cornelis B Lambalk

Journal:

Reproductive Biology and Endocrinology

Year:

2007

Language:

english

File:

PDF, 247 KB

english, 2007

14

Genetics of dementia: Update and guidelines for the clinician

Petra E. Cohn-Hokke, Mariet W. Elting, Yolande A.L. Pijnenburg, John C. van Swieten

Journal:

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

Year:

2012

Language:

english

File:

PDF, 318 KB

english, 2012

15

Dementie en erfelijkheid

Journal:

Year:

2008

Language:

dutch

File:

PDF, 875 KB

dutch, 2008

16

Aging women with polycystic ovary syndrome who achieve regular menstrual cycles have a smaller follicle cohort than those who continue to have irregular cycles

Mariet W Elting, Janet Kwee, Ted J.M Korsen, Lyset T.M Rekers-Mombarg, Joop Schoemaker

Journal:

Fertility and Sterility

Year:

2003

Language:

english

File:

PDF, 111 KB

english, 2003

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