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De novo stop-loss variants in CLDN11 cause hypomyelinating leukodystrophy.
Published in:
2021
By:
- Riedhammer, Korbinian M;
- Stockler, Sylvia;
- Ploski, Rafal;
- Wenzel, Maren;
- Adis-Dutschmann, Burkhard;
- Ahting, Uwe;
- Alhaddad, Bader;
- Blaschek, Astrid;
- Haack, Tobias B;
- Kopajtich, Robert;
- Lee, Jessica;
- Pienkowski, Victor Murcia;
- Pollak, Agnieszka;
- Szymanska, Krystyna;
- Tarailo-Graovac, Maja;
- van der Lee, Robin;
- Karnebeek, Clara D van;
- Meitinger, Thomas;
- Krägeloh-Mann, Ingeborg;
- Vill, Katharina
Publication type:
journal article
Association between fetal sex, birthweight percentile and adverse pregnancy outcome.
Published in:
2020
By:
- Voskamp, Bart Jan;
- Peelen, Myrthe J. C. S.;
- Ravelli, Anita C. J.;
- Lee, Robin;
- Mol, Ben W. J.;
- Pajkrt, Eva;
- Ganzevoort, Wessel;
- Kazemier, Brenda M.;
- van der Lee, Robin
Publication type:
journal article
Erratum.
Published in:
Nucleic Acids Research, 2018, v. 46, n. D1, p. D1284, doi. 10.1093/nar/gkx1188
By:
- Khan, Aziz;
- Fornes, Oriol;
- Stigliani, Arnaud;
- Gheorghe, Marius;
- Castro-Mondragon, Jaime A;
- van der Lee, Robin;
- Bessy, Adrien;
- Chèneby, Jeanne;
- Kulkarni, Shubhada R;
- Tan, Ge
Publication type:
Article
JASPAR 2018: update of the open-access database of transcription factor binding profiles and its web framework.
Published in:
Nucleic Acids Research, 2018, v. 46, n. D1, p. D260, doi. 10.1093/nar/gkx1126
By:
- Khan, Aziz;
- Fornes, Oriol;
- Stigliani, Arnaud;
- Gheorghe, Marius;
- Castro-Mondragon, Jaime A;
- van der Lee, Robin;
- Bessy, Adrien;
- Chèneby, Jeanne;
- Kulkarni, Shubhada R;
- Tan, Ge
Publication type:
Article
Genome-scale detection of positive selection in nine primates predicts human-virus evolutionary conflicts.
Published in:
Nucleic Acids Research, 2017, v. 45, n. 18, p. 10634, doi. 10.1093/nar/gkx704
By:
- van der Lee, Robin;
- Wiel, Laurens;
- van Dam, Teunis J. P.;
- Huynen, Martijn A.
Publication type:
Article
Feasibility of monitoring stress using skin conduction measurements during intubation of newborns.
Published in:
2016
By:
- Lee, Robin;
- Jebbink, Liesbeth;
- Herpen, Thea;
- d'Haens, Esther;
- Bierhuizen, Josette;
- Lingen, Richard;
- van der Lee, Robin;
- Jebbink, Liesbeth Jm Groot;
- van Herpen, Thea Hm;
- d'Haens, Esther J;
- van Lingen, Richard A;
- Jebbink, Liesbeth J M Groot;
- van Herpen, Thea H M
Publication type:
journal article
Exploring professionals' views regarding prenatal counselling in congenital diaphragmatic hernia.
Published in:
Journal of Perinatal Medicine, 2023, v. 51, n. 9, p. 1229, doi. 10.1515/jpm-2023-0227
By:
- De Groot, Celeste R.S.;
- Konings, Esther J.C.;
- de Boode, Willem P.;
- Oerlemans, Anke J.M.;
- Sikkel, Esther;
- Botden, Sanne M.B.I.;
- Merkus, Peter J.;
- van der Lee, Robin;
- Geurtzen, Rosa
Publication type:
Article
RevUP: an online scoring system for regulatory variants implicated in rare diseases.
Published in:
Bioinformatics, 2022, v. 38, n. 9, p. 2664, doi. 10.1093/bioinformatics/btac157
By:
- Correard, Solenne;
- Hewitson, Brittany;
- van der Lee, Robin;
- Wasserman, Wyeth W
Publication type:
Article
Integrative Genomics-Based Discovery of Novel Regulators of the Innate Antiviral Response.
Published in:
PLoS Computational Biology, 2015, v. 11, n. 10, p. 1, doi. 10.1371/journal.pcbi.1004553
By:
- van der Lee, Robin;
- Feng, Qian;
- Langereis, Martijn A.;
- ter Horst, Rob;
- Szklarczyk, Radek;
- Netea, Mihai G.;
- Andeweg, Arno C.;
- van Kuppeveld, Frank J. M.;
- Huynen, Martijn A.
Publication type:
Article
Comparing conventional and modified Seldinger techniques using a micro-insertion kit for PICC placement in neonates: a retrospective cohort study.
Published in:
Frontiers in Pediatrics, 2024, p. 1, doi. 10.3389/fped.2024.1395395
By:
- van Rens, Matheus F. P. T.;
- Hugill, Kevin;
- van der Lee, Robin;
- Francia, Airene L. V.;
- van Loon, Fredericus H. J.;
- Bayoumi, Mohammad A. A.
Publication type:
Article
JASPAR 2020: update of the open-access database of transcription factor binding profiles.
Published in:
Nucleic Acids Research, 2020, v. 48, n. D1, p. D87, doi. 10.1093/nar/gkz1001
By:
- Fornes, Oriol;
- Castro-Mondragon, Jaime A;
- Khan, Aziz;
- van der Lee, Robin;
- Zhang, Xi;
- Richmond, Phillip A;
- Modi, Bhavi P;
- Correard, Solenne;
- Gheorghe, Marius;
- Baranašić, Damir;
- Santana-Garcia, Walter;
- Tan, Ge;
- Chèneby, Jeanne;
- Ballester, Benoit;
- Parcy, François;
- Sandelin, Albin;
- Lenhard, Boris;
- Wasserman, Wyeth W;
- Mathelier, Anthony
Publication type:
Article
CiliaCarta: An integrated and validated compendium of ciliary genes.
Published in:
PLoS ONE, 2019, v. 14, n. 5, p. 1, doi. 10.1371/journal.pone.0216705
By:
- van Dam, Teunis J. P.;
- Kennedy, Julie;
- van der Lee, Robin;
- de Vrieze, Erik;
- Wunderlich, Kirsten A.;
- Rix, Suzanne;
- Dougherty, Gerard W.;
- Lambacher, Nils J.;
- Li, Chunmei;
- Jensen, Victor L.;
- Leroux, Michel R.;
- Hjeij, Rim;
- Horn, Nicola;
- Texier, Yves;
- Wissinger, Yasmin;
- van Reeuwijk, Jeroen;
- Wheway, Gabrielle;
- Knapp, Barbara;
- Scheel, Jan F.;
- Franco, Brunella
Publication type:
Article
Transcriptome analysis of complex I-deficient patients reveals distinct expression programs for subunits and assembly factors of the oxidative phosphorylation system.
Published in:
BMC Genomics, 2015, v. 16, n. 1, p. 1, doi. 10.1186/s12864-015-1883-8
By:
- van der Lee, Robin;
- Szklarczyk, Radek;
- Smeitink, Jan;
- Smeets, Hubert J. M.;
- Huynen, Martijn A.;
- Vogel, Rutger
Publication type:
Article

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