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Author/Creator Brunner, Han G

1. C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome. Issue 6 (4th March 2011)

Authors:
Arts, Heleen H; Bongers, Ernie M H F; Mans, Dorus A; van Beersum, Sylvia E C; Oud, Machteld M; Bolat, Emine; Spruijt, Liesbeth; Cornelissen, Elisabeth A M; Schuurs-Hoeijmakers, Janneke H M; de Leeuw, Nicole; Cormier-Daire, Valérie; Brunner, Han G; Knoers, Nine V A M; Roepman, Ronald
Journal:
Journal of medical genetics
Issue:
Volume 48:Issue 6(2011)
Page Start:
390
Record Type:
Journal Article
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2. Embryo tracking system for high-throughput sequencing-based preimplantation genetic testing. Issue 11 (23rd September 2022)

Authors:
van Dijk, Wanwisa; Derks, Kasper; Drüsedau, Marion; Meekels, Jeroen; Koeck, Rebekka; Essers, Rick; Dreesen, Joseph; Coonen, Edith; de Die-Smulders, Christine; Stevens, Servi J C; Brunner, Han G; van den Wijngaard, Arthur; Paulussen, Aimée D C; Zamani Esteki, Masoud
Journal:
Human reproduction
Issue:
Volume 37:Issue 11(2022)
Page Start:
2700
Record Type:
Journal Article
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3. Estimation of heritability of different outcomes for genetic studies of TNFi response in patients with rheumatoid arthritis. Issue 12 (11th August 2014)

Authors:
Umićević Mirkov, Maša; Janss, Luc; Vermeulen, Sita H; van de Laar, Mart A F J; van Riel, Piet L C M; Guchelaar, Henk-Jan; Brunner, Han G; Albers, Cornelis A; Coenen, Marieke J H
Journal:
Annals of the rheumatic diseases
Issue:
Volume 74:Issue 12(2015)
Page Start:
2183
Record Type:
Journal Article
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4. Expanding the clinical spectrum of recessive truncating mutations of KLHL7 to a Bohring-Opitz-like phenotype. Issue 12 (26th October 2017)

Authors:
Bruel, Ange-Line; Bigoni, Stefania; Kennedy, Joanna; Whiteford, Margo; Buxton, Chris; Parmeggiani, Giulia; Wherlock, Matt; Woodward, Geoff; Greenslade, Mark; Williams, Maggie; St-Onge, Judith; Ferlini, Alessandra; Garani, Giampaolo; Ballardini, Elisa; van Bon, Bregje W; Acuna-Hidalgo, Rocio; Bohr...
Journal:
Journal of medical genetics
Issue:
Volume 54:Issue 12(2017)
Page Start:
830
Record Type:
Journal Article
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5. GATAD2B loss-of-function mutations cause a recognisable syndrome with intellectual disability and are associated with learning deficits and synaptic undergrowth in Drosophila. Issue 8 (4th May 2013)

Authors:
Willemsen, Marjolein H; Nijhof, Bonnie; Fenckova, Michaela; Nillesen, Willy M; Bongers, Ernie M H F; Castells-Nobau, Anna; Asztalos, Lenke; Viragh, Erika; van Bon, Bregje W M; Tezel, Emre; Veltman, Joris A; Brunner, Han G; de Vries, Bert B A; de Ligt, Joep; Yntema, Helger G; van Bokhoven, Hans; I...
Journal:
Journal of medical genetics
Issue:
Volume 50:Issue 8(2013)
Page Start:
507
Record Type:
Journal Article
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6. Genetic convergence of developmental and epileptic encephalopathies and intellectual disability. (11th July 2021)

Authors:
Carvill, Gemma L; Jansen, Sandra; Lacroix, Amy; Zemel, Matthew; Mehaffey, Michele; De Vries, Petra; Brunner, Han G; Scheffer, Ingrid E; De Vries, Bert B A; Vissers, Lisenka E L M; Mefford, Heather C
Journal:
Developmental medicine & child neurology
Issue:
Volume 63:Number 12(2021)
Page Start:
1441
Record Type:
Journal Article
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7. Genome-wide association analysis of anti-TNF drug response in patients with rheumatoid arthritis. Issue 8 (11th December 2012)

Authors:
Umiċeviċ Mirkov, Maša; Cui, Jing; Vermeulen, Sita H; Stahl, Eli A; Toonen, Erik J M; Makkinje, Remco R; Lee, Annette T; Huizinga, Tom W J; Allaart, Renee; Barton, Anne; Mariette, Xavier; Miceli, Corinne Richard; Criswell, Lindsey A; Tak, Paul P; de Vries, Niek; Saevarsdottir, Saedis; Padyukov, Le...
Journal:
Annals of the rheumatic diseases
Issue:
Volume 72:Issue 8(2013)
Page Start:
1375
Record Type:
Journal Article
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8. Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing. Issue 12 (11th October 2013)

Authors:
Schuurs-Hoeijmakers, Janneke H M; Vulto-van Silfhout, Anneke T; Vissers, Lisenka E L M; van de Vondervoort, Ilse I G M; van Bon, Bregje W M; de Ligt, Joep; Gilissen, Christian; Hehir-Kwa, Jayne Y; Neveling, Kornelia; del Rosario, Marisol; Hira, Gausiya; Reitano, Santina; Vitello, Aurelio; Failla,...
Journal:
Journal of medical genetics
Issue:
Volume 50:Issue 12(2013)
Page Start:
802
Record Type:
Journal Article
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9. Liquid biopsy: state of reproductive medicine and beyond. Issue 11 (25th September 2021)

Authors:
Schobers, Gaby; Koeck, Rebekka; Pellaers, Dominique; Stevens, Servi J C; Macville, Merryn V E; Paulussen, Aimée D C; Coonen, Edith; van den Wijngaard, Arthur; de Die-Smulders, Christine; de Wert, Guido; Brunner, Han G; Zamani Esteki, Masoud
Journal:
Human reproduction
Issue:
Volume 36:Issue 11(2021)
Page Start:
2824
Record Type:
Journal Article
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10. Mutations in DYNC1H1 cause severe intellectual disability with neuronal migration defects. Issue 3 (24th February 2012)

Authors:
Willemsen, Marjolein H; Vissers, Lisenka E L; Willemsen, Michèl A A P; van Bon, Bregje W M; Kroes, Thessa; de Ligt, Joep; de Vries, Bert B; Schoots, Jeroen; Lugtenberg, Dorien; Hamel, Ben C J; van Bokhoven, Hans; Brunner, Han G; Veltman, Joris A; Kleefstra, Tjitske
Journal:
Journal of medical genetics
Issue:
Volume 49:Issue 3(2012)
Page Start:
179
Record Type:
Journal Article
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