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Installieren Sie die LibKey Nomad-Browsererweiterung und erhalten Sie von vielen Webseiten einfachen Zugriff auf lizenzierte Volltexte oder Open Access Publikationen. Mehr erfahren...International journal of neonatal screening, 2020-03, Vol.6 (1), p.10-10
2020
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The Journal of pediatrics, 2014-11, Vol.165 (5), p.1057-1059.e4
2014
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American journal of human genetics, 2022-05, Vol.109 (5), p.944-952
- Rahimi, Meer Jacob
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- Stegmann, Alexander P A
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- de Vries, Bert B A
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2022
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Journal of pediatric hematology/oncology, 2021-05, Vol.43 (4), p.e546-e549
2021
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Journal of medical genetics, 2022-07, Vol.59 (7), p.669-677
- Acharya, Anushree
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2022
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Clinics in perinatology, 2015-06, Vol.42 (2), p.321-336
2015
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American journal of medical genetics. Part A, 2021-08, Vol.185 (8), p.2417-2433
- Bowles, Bradley
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2021
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Current opinion in pediatrics, 2017-12, Vol.29 (6), p.619-621
2017
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American journal of physiology. Heart and circulatory physiology, 2016-06, Vol.310 (11), p.H1520-H1532
2016
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Clinics in perinatology, 2015-06, Vol.42 (2), p.321-336
2015
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American journal of medical genetics. Part A, 2015-07, Vol.167A (7), p.1610-1613
2015
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Molecular genetics and metabolism, 2021-04, Vol.132, p.S269
2021
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eP415 - Expanding the mutational spectrum for branchiooculofacial syndrome: a novel nonsense variant
2021
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Molecular genetics and metabolism, 2024-04, Vol.141 (4), p.108339, Article 108339
2024
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Kidney international, 2022-05, Vol.101 (5), p.1039-1053
- Münch, Johannes
- Engesser, Marie
- Schönauer, Ria
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- Pehlivan, Davut
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- Coban Akdemir, Zeynep
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2022
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Nephrology, dialysis, transplantation, 2022-05, Vol.37 (Supplement_3)
- Münch, Johannes
- Engesser, Marie
- Schönauer, Ria
- Hamm, J Austin
- Akay, Gulsen
- Tüysüz, Beyhan
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- Dateki, Sumito
- Claus, Laura
- van Eerde, Albertien M
- Wagner, Timo
- Bergmann, Carsten
- Buchan, Jillian
- Wegner, Tara
- Posey, Jennifer
- Lupski, James R
- Petit, Florence
- Mccarthy, Andrew A
- Pazour, Gregory J
- Lo, Cecilia W
- Popp, Bernt
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2022
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Genetics in medicine, 2021-11, Vol.23 (11), p.2122-2137
- Weerts, Marjolein J A
- Lanko, Kristina
- Guzmán-Vega, Francisco J
- Jackson, Adam
- Ramakrishnan, Reshmi
- Cardona-Londoño, Kelly J
- Peña-Guerra, Karla A
- van Bever, Yolande
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- Kievit, Anneke
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- Kehoe, Caroline M
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- Pang, Lewis
- Banu, Selina H
- Zaman, Mashaya
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- Ruivenkamp, Claudia A L
- Barge-Schaapveld, Daniela Q C M
- Peeters-Scholte, Cacha M P C D
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- Sisodiya, Sanjay M
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- Polstra, Abeltje M
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- Koboldt, Daniel C
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- Pastore, Matthew T
- McBride, Kim L
- Peng, Jing
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- Turnpenny, Peter D
- de Vries, Bert B A
- Gilissen, Christian
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- Lees, Melissa
- Braddock, Stephen R
- Klemp, Kara C
- Vansenne, Fleur
- van Gijn, Marielle E
- Quindipan, Catherine
- Deardorff, Matthew A
- Hamm, J Austin
- Putnam, Abbey M
- Baud, Rebecca
- Walsh, Laurence
- Lynch, Sally A
- Baptista, Julia
- Person, Richard E
- Monaghan, Kristin G
- Crunk, Amy
- Keller-Ramey, Jennifer
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- Banka, Siddharth
- Arold, Stefan T
- Barakat, Tahsin Stefan
2021
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Neurology, 2016-04, Vol.86 (16_supplement)
2016
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International journal of neonatal screening, 2020-02, Vol.6 (1)
2020
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Pediatric Cancer Genetics, 2018, p.65-75
2018
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Pediatric Cancer Genetics, 2017
2017
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Gastroenterology (New York, N.Y. 1943), 2021-05, Vol.160 (6), p.S-927-S-927
2021
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International journal of geriatric psychiatry, 2012-04, Vol.27 (4), p.364-374
2012
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Molecular biology of the cell, 2003-11, Vol.14 (11), p.4397-4413
2003
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Journal of cell science, 2003-05, Vol.116 (Pt 10), p.2051-2065
2003
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Thema
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- Genetics & Heredity
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Zeitschrift / Serie
- Experimental Eye Research
- Molecular Genetics And Metabolism
- Advances In Experimental Medicine And Biology
- American Journal Of Medical Genetics. Part A
- Clinics In Perinatology
- International Journal Of Neonatal Screening
- Lacrimal Gland, Tear Film, And Dry Eye Syndromes 3
- Lacrimal Gland, Tear Film, And Dry Eye Syndromes 3: Basic Science And Clinical Relevance, Pts A & B
- The Quarterly Journal Of Speech
- American Journal Of Human Genetics