Search

Author/Creator Hofstra, Robert M W

1. A consanguineous family with Hirschsprung disease, microcephaly, and mental retardation (Goldberg-Shprintzen syndrome). Issue 6 (1st June 1999)

Authors:
Brooks, Alice S; Breuning, Martijn H; Osinga, Jan; Smagt, Jasper J vd; Catsman, Corine E; Buys, Charles H C M; Meijers, Carel; Hofstra, Robert M W
Journal:
Journal of medical genetics
Issue:
Volume 36:Issue 6(1999)
Page Start:
485
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

2. Combined adverse effects of maternal smoking and high body mass index on heart development in offspring: evidence for interaction?. Issue 6 (30th January 2012)

Authors:
Baardman, Maria E; Kerstjens-Frederikse, Wilhelmina S; Corpeleijn, Eva; de Walle, Hermien E K; Hofstra, Robert M W; Berger, Rolf M F; Bakker, Marian K
Journal:
Heart
Issue:
Volume 98:Issue 6(2012)
Page Start:
474
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

3. Genotype–phenotype correlations in L1 syndrome: a guide for genetic counselling and mutation analysis. Issue 3 (20th October 2009)

Authors:
Vos, Yvonne J; de Walle, Hermien E K; Bos, Krista K; Stegeman, Jenneke A; ten Berge, Annelies M; Bruining, Martijn; van Maarle, Merel C; Elting, Mariet W; den Hollander, Nicolette S; Hamel, Ben; Fortuna, Ana Maria; Sunde, Lone E M; Stolte-Dijkstra, Irene; Schrander-Stumpel, Connie T R M; Hofstra,...
Journal:
Journal of medical genetics
Issue:
Volume 47:Issue 3(2010)
Page Start:
169
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

4. Left ventricular outflow tract obstruction: should cardiac screening be offered to first-degree relatives?. Issue 15 (22nd February 2011)

Authors:
Kerstjens-Frederikse, Wilhelmina S; Du Marchie Sarvaas, Gideon J; Ruiter, Jolien S; Van Den Akker, Peter C; Temmerman, Arno M; Van Melle, Joost P; Hofstra, Robert M W; Berger, Rolf M F
Journal:
Heart
Issue:
Volume 97:Issue 15(2011)
Page Start:
1228
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

5. Loss of enteric neuronal Ndrg4 promotes colorectal cancer via increased release of Nid1 and Fbln2. (23rd April 2021)

Authors:
Vaes, Nathalie; Schonkeren, Simone L; Rademakers, Glenn; Holland, Amy M; Koch, Alexander; Gijbels, Marion J; Keulers, Tom G; de Wit, Meike; Moonen, Laura; Van der Meer, Jaleesa R M; van den Boezem, Edith; Wolfs, Tim G A M; Threadgill, David W; Demmers, Jeroen; Fijneman, Remond J A; Jimenez, Conni...
Journal:
EMBO reports
Issue:
Volume 22:Number 6(2021)
Page Start:
n/a
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

7. TBX4 mutations (small patella syndrome) are associated with childhood-onset pulmonary arterial hypertension. Issue 8 (16th April 2013)

Authors:
Kerstjens-Frederikse, Wilhelmina S; Bongers, Ernie M H F; Roofthooft, Marcus T R; Leter, Edward M; Douwes, J Menno; Van Dijk, Arie; Vonk-Noordegraaf, Anton; Dijk-Bos, Krista K; Hoefsloot, Lies H; Hoendermis, Elke S; Gille, Johan J P; Sikkema-Raddatz, Birgit; Hofstra, Robert M W; Berger, Rolf M F
Journal:
Journal of medical genetics
Issue:
Volume 50:Issue 8(2013)
Page Start:
500
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

8. The inversa type of recessive dystrophic epidermolysis bullosa is caused by specific arginine and glycine substitutions in type VII collagen. Issue 3 (26th November 2010)

Authors:
van den Akker, Peter C; Mellerio, Jemima E; Martinez, Anna E; Liu, Lu; Meijer, Rowdy; Dopping-Hepenstal, Patricia J C; van Essen, Anthonie J; Scheffer, Hans; Hofstra, Robert M W; McGrath, John A; Jonkman, Marcel F
Journal:
Journal of medical genetics
Issue:
Volume 48:Issue 3(2011)
Page Start:
160
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

9. The long Filamin-A isoform is required for intestinal development and motility: implications for chronic intestinal pseudo-obstruction. Issue 1 (18th August 2022)

Authors:
Zada, Almira; Zhao, Yuying; Halim, Danny; Windster, Jonathan; van der Linde, Herma C; Glodener, Jackleen; Overkleeft, Sander; de Graaf, Bianca M; Verdijk, Robert M; Brooks, Alice S; Shepherd, Iain; Gao, Ya; Burns, Alan J; Hofstra, Robert M W; Alves, Maria M
Journal:
Human molecular genetics
Issue:
Volume 32:Issue 1(2023)
Page Start:
151
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

10. Three-step site-directed mutagenesis screen identifies pathogenic MLH1 variants associated with Lynch syndrome. Issue 5 (29th November 2019)

Authors:
Houlleberghs, Hellen; Dekker, Marleen; Lusseveld, Jarnick; Pieters, Wietske; van Ravesteyn, Thomas; Verhoef, Senno; Hofstra, Robert M W; te Riele, Hein
Journal:
Journal of medical genetics
Issue:
Volume 57:Issue 5(2020)
Page Start:
308
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗