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	181.	Location of mutations within the PKD2 gene influences clinical outcome. [electronic resource] by Hateboer, N Veldhuisen, B Peters, D Breuning, M H San-Millán, J L Bogdanova, N Coto, E van Dijk, M A Afzal, A R Jeffery, S Saggar-Malik, A K Torra, R Dimitrakov, D Martinez, I de Castro, S S Krawczak, M Ravine, D Producer: 20000509 In: Kidney international vol. 57 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	182.	Pseudoxanthoma elasticum maps to an 820-kb region of the p13.1 region of chromosome 16. [electronic resource] by Le Saux, O Urban, Z Göring, H H Csiszar, K Pope, F M Richards, A Pasquali-Ronchetti, I Terry, S Bercovitch, L Lebwohl, M G Breuning, M van den Berg, P Kornet, L Doggett, N Ott, J de Jong, P T Bergen, A A Boyd, C D Producer: 20000204 In: Genomics vol. 62 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	183.	Bannayan-Riley-Ruvalcaba syndrome: further delineation of the phenotype and management of PTEN mutation-positive cases. [electronic resource] by Hendriks, Y M C Verhallen, J T C M van der Smagt, J J Kant, S G Hilhorst, Y Hoefsloot, L Hansson, K B-M van der Straaten, P J C Boutkan, H Breuning, M H Vasen, H F A Bröcker-Vriends, A H J T Producer: 20040120 In: Familial cancer vol. 2 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	184.	Diagnostic analysis of the Rubinstein-Taybi syndrome: five cosmids should be used for microdeletion detection and low number of protein truncating mutations. [electronic resource] by Petrij, F Dauwerse, H G Blough, R I Giles, R H van der Smagt, J J Wallerstein, R Maaswinkel-Mooy, P D van Karnebeek, C D van Ommen, G J van Haeringen, A Rubinstein, J H Saal, H M Hennekam, R C Peters, D J Breuning, M H Producer: 20000420 In: Journal of medical genetics vol. 37 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	185.	Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant. [electronic resource] by Hannes, F D Sharp, A J Mefford, H C de Ravel, T Ruivenkamp, C A Breuning, M H Fryns, J-P Devriendt, K Van Buggenhout, G Vogels, A Stewart, H Hennekam, R C Cooper, G M Regan, R Knight, S J L Eichler, E E Vermeesch, J R Producer: 20090528 In: Journal of medical genetics vol. 46 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	186.	Genomic structure and complete nucleotide sequence of the Batten disease gene, CLN3. [electronic resource] by Mitchison, H M Munroe, P B O'Rawe, A M Taschner, P E de Vos, N Kremmidiotis, G Lensink, I Munk, A C D'Arigo, K L Anderson, J W Lerner, T J Moyzis, R K Callen, D F Breuning, M H Doggett, N A Gardiner, R M Mole, S E Producer: 19970424 In: Genomics vol. 40 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	187.	Genomic acute myeloid leukemia-associated inv(16)(p13q22) breakpoints are tightly clustered. [electronic resource] by van der Reijden, B A Dauwerse, H G Giles, R H Jagmohan-Changur, S Wijmenga, C Liu, P P Smit, B Wessels, H W Beverstock, G C Jotterand-Bellomo, M Martinet, D Mühlematter, D Lafage-Pochitaloff, M Gabert, J Reiffers, J Bilhou-Nabera, C van Ommen, G J Hagemeijer, A Breuning, M H Producer: 19990216 In: Oncogene vol. 18 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	188.	Atypical HNPCC owing to MSH6 germline mutations: analysis of a large Dutch pedigree. [electronic resource] by Wagner, A Hendriks, Y Meijers-Heijboer, E J de Leeuw, W J Morreau, H Hofstra, R Tops, C Bik, E Bröcker-Vriends, A H van Der Meer, C Lindhout, D Vasen, H F Breuning, M H Cornelisse, C J van Krimpen, C Niermeijer, M F Zwinderman, A H Wijnen, J Fodde, R Producer: 20011018 In: Journal of medical genetics vol. 38 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	189.	Homozygous and heterozygous expression of a novel insulin-like growth factor-I mutation. [electronic resource] by Walenkamp, M J E Karperien, M Pereira, A M Hilhorst-Hofstee, Y van Doorn, J Chen, J W Mohan, S Denley, A Forbes, B van Duyvenvoorde, H A van Thiel, S W Sluimers, C A Bax, J J de Laat, J A P M Breuning, M B Romijn, J A Wit, J M Producer: 20050609 In: The Journal of clinical endocrinology and metabolism vol. 90 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	190.	Hereditary leiomyomatosis and renal cell cancer in families referred for fumarate hydratase germline mutation analysis. [electronic resource] by Smit, D L Mensenkamp, A R Badeloe, S Breuning, M H Simon, M E H van Spaendonck, K Y Aalfs, C M Post, J G Shanley, S Krapels, I P C Hoefsloot, L H van Moorselaar, R J A Starink, T M Bayley, J-P Frank, J van Steensel, M A M Menko, F H Producer: 20110321 In: Clinical genetics vol. 79 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	191.	Rubinstein-Taybi syndrome caused by submicroscopic deletions within 16p13.3. [electronic resource] by Breuning, M H Dauwerse, H G Fugazza, G Saris, J J Spruit, L Wijnen, H Tommerup, N van der Hagen, C B Imaizumi, K Kuroki, Y van den Boogaard, M J de Pater, J M Mariman, E C Hamel, B C Himmelbauer, H Frischauf, A M Stallings, R Beverstock, G C van Ommen, G J Hennekam, R C Producer: 19930310 In: American journal of human genetics vol. 52 Availability: No items available. Save to lists Add to cart (remove)
	192.	Linkage and LOH studies in 19 cylindromatosis families show no evidence of genetic heterogeneity and refine the CYLD locus on chromosome 16q12-q13. [electronic resource] by Takahashi, M Rapley, E Biggs, P J Lakhani, S R Cooke, D Hansen, J Blair, E Hofmann, B Siebert, R Turner, G Evans, D G Schrander-Stumpel, C Beemer, F A van Vloten, W A Breuning, M H van den Ouweland, A Halley, D Delpech, B Cleveland, M Leigh, I Chapman, P Burn, J Hohl, D Görög, J P Seal, S Mangion, J Producer: 20000922 In: Human genetics vol. 106 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	193.	Molecular analysis of SALL1 mutations in Townes-Brocks syndrome. [electronic resource] by Kohlhase, J Taschner, P E Burfeind, P Pasche, B Newman, B Blanck, C Breuning, M H ten Kate, L P Maaswinkel-Mooy, P Mitulla, B Seidel, J Kirkpatrick, S J Pauli, R M Wargowski, D S Devriendt, K Proesmans, W Gabrielli, O Coppa, G V Wesby-van Swaay, E Trembath, R C Schinzel, A A Reardon, W Seemanova, E Engel, W Producer: 19990413 In: American journal of human genetics vol. 64 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	194.	A Dutch MYH7 founder mutation, p.(Asn1918Lys), is associated with early onset cardiomyopathy and congenital heart defects. [electronic resource] by van der Linde, I H M Hiemstra, Y L Bökenkamp, R van Mil, A M Breuning, M H Ruivenkamp, C Ten Broeke, S W Veldkamp, R F van Waning, J I van Slegtenhorst, M A van Spaendonck-Zwarts, K Y Lekanne Deprez, R H Herkert, J C Boven, L van der Zwaag, P A Jongbloed, J D H Bootsma, M Barge-Schaapveld, D Q C M Publication details: Netherlands heart journal : monthly journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation Dec 2017 In: Netherlands heart journal : monthly journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation vol. 25 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	195.	Genetic analysis of short children with apparent growth hormone insensitivity. [electronic resource] by Wit, J M van Duyvenvoorde, H A Scheltinga, S A de Bruin, S Hafkenscheid, L Kant, S G Ruivenkamp, C A L Gijsbers, A C J van Doorn, J Feigerlova, E Noordam, C Walenkamp, M J Claahsen-van de Grinten, H Stouthart, P Bonapart, I E Pereira, A M Gosen, J Delemarre-van de Waal, H A Hwa, V Breuning, M H Domené, H M Oostdijk, W Losekoot, M Producer: 20121105 In: Hormone research in paediatrics vol. 77 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	196.	Multiplicity in polyp count and extracolonic manifestations in 40 Dutch patients with MYH associated polyposis coli (MAP). [electronic resource] by Nielsen, M Franken, P F Reinards, T H C M Weiss, M M Wagner, A van der Klift, H Kloosterman, S Houwing-Duistermaat, J J Aalfs, C M Ausems, M G E M Bröcker-Vriends, A H J T Gomez Garcia, E B Hoogerbrugge, N Menko, F H Sijmons, R H Verhoef, S Kuipers, E J Morreau, H Breuning, M H Tops, C M J Wijnen, J T Vasen, H F A Fodde, R Hes, F J Producer: 20060727 In: Journal of medical genetics vol. 42 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	197.	Extending the phenotype of recurrent rearrangements of 16p11.2: deletions in mentally retarded patients without autism and in normal individuals. [electronic resource] by Bijlsma, E K Gijsbers, A C J Schuurs-Hoeijmakers, J H M van Haeringen, A Fransen van de Putte, D E Anderlid, B-M Lundin, J Lapunzina, P Pérez Jurado, L A Delle Chiaie, B Loeys, B Menten, B Oostra, A Verhelst, H Amor, D J Bruno, D L van Essen, A J Hordijk, R Sikkema-Raddatz, B Verbruggen, K T Jongmans, M C J Pfundt, R Reeser, H M Breuning, M H Ruivenkamp, C A L Producer: 20090901 In: European journal of medical genetics vol. 52 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	198.	The IGSF1 deficiency syndrome: characteristics of male and female patients. [electronic resource] by Joustra, S D Schoenmakers, N Persani, L Campi, I Bonomi, M Radetti, G Beck-Peccoz, P Zhu, H Davis, T M E Sun, Y Corssmit, E P Appelman-Dijkstra, N M Heinen, C A Pereira, A M Varewijck, A J Janssen, J A M J L Endert, E Hennekam, R C Lombardi, M P Mannens, M M A M Bak, B Bernard, D J Breuning, M H Chatterjee, K Dattani, M T Oostdijk, W Biermasz, N R Wit, J M van Trotsenburg, A S P Producer: 20140414 In: The Journal of clinical endocrinology and metabolism vol. 98 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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