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Expanded extracolonic tumor spectrum in MUTYH-associated polyposis. [electronic resource] by
- Vogt, Stefanie
- Jones, Natalie
- Christian, Daria
- Engel, Christoph
- Nielsen, Maartje
- Kaufmann, Astrid
- Steinke, Verena
- Vasen, Hans F
- Propping, Peter
- Sampson, Julian R
- Hes, Frederik J
- Aretz, Stefan
Producer: 20091224
In:
Gastroenterology vol. 137
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Multiple genomic aberrations in a patient with mental retardation and hypogonadism: 45,X/46,X,psu dic(Y) karyotype, thyroid hormone receptor beta (THRB) mutation and heterozygosity for Wilson disease. [electronic resource] by
- Hes, Frederik J
- Madan, Kamlesh
- Rombout-Liem, I Shan
- Szuhai, Karoly
- Sørensen, Helena
- van Amstel, Hans Kristian Ploos
- Bakker, Egbert
- Visser, Theo J
- Smit, Johannes W
- Hansson, Kerstin
Producer: 20091217
In:
American journal of medical genetics. Part A vol. 149A
Availability: No items available.
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30.
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Global distribution of the most prevalent deletions causing hypotonia-cystinuria syndrome. [electronic resource] by
- Martens, Kevin
- Heulens, Inge
- Meulemans, Sandra
- Zaffanello, Marco
- Tilstra, David
- Hes, Frederik J
- Rooman, Raoul
- François, Inge
- de Zegher, Francis
- Jaeken, Jaak
- Matthijs, Gert
- Creemers, John W M
Producer: 20071121
In:
European journal of human genetics : EJHG vol. 15
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31.
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Excluding Lynch syndrome in a female patient with metachronous DNA mismatch repair deficient colon- and ovarian cancer. [electronic resource] by
- Crobach, Stijn
- Jansen, Anne M L
- Ligtenberg, Marjolein J L
- Koopmans, Marije
- Nielsen, Maartje
- Hes, Frederik J
- Wijnen, Juul T
- Dinjens, Winand N M
- van Wezel, Tom
- Morreau, Hans
Producer: 20190308
In:
Familial cancer vol. 17
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Association of the M1V PRKAR1A mutation with primary pigmented nodular adrenocortical disease in two large families. [electronic resource] by
- Pereira, Alberto M
- Hes, Frederik J
- Horvath, Anelia
- Woortman, Sanne
- Greene, Elizabeth
- Bimpaki, Eirini
- Alatsatianos, Anton
- Boikos, Sosipatros
- Smit, Johannes W
- Romijn, Johannes A
- Nesterova, Maria
- Stratakis, Constantine A
Producer: 20100201
In:
The Journal of clinical endocrinology and metabolism vol. 95
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The complexity of screening PMS2 in DNA isolated from formalin-fixed paraffin-embedded material. [electronic resource] by
- Jansen, Anne M L
- Tops, Carli M J
- Ruano, Dina
- van Eijk, Ronald
- Wijnen, Juul T
- Ten Broeke, Sanne
- Nielsen, Maartje
- Hes, Frederik J
- van Wezel, Tom
- Morreau, Hans
Producer: 20210430
In:
European journal of human genetics : EJHG vol. 28
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Molecular characterization of novel germline deletions affecting SDHD and SDHC in pheochromocytoma and paraganglioma patients. [electronic resource] by
- Bayley, Jean-Pierre
- Weiss, Marjan M
- Grimbergen, Anneliese
- van Brussel, Bernadette T J
- Hes, Frederik J
- Jansen, Jeroen C
- Verhoef, Senno
- Devilee, Peter
- Corssmit, Eleonora P
- Vriends, Annette H J T
Producer: 20091203
In:
Endocrine-related cancer vol. 16
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Increased colorectal cancer incidence in obligate carriers of heterozygous mutations in MUTYH. [electronic resource] by
- Jones, Natalie
- Vogt, Stefanie
- Nielsen, Maartje
- Christian, Daria
- Wark, Petra A
- Eccles, Diana
- Edwards, Emma
- Evans, D Gareth
- Maher, Eamonn R
- Vasen, Hans F
- Hes, Frederik J
- Aretz, Stefan
- Sampson, Julian R
Producer: 20090813
In:
Gastroenterology vol. 137
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Survival of MUTYH-associated polyposis patients with colorectal cancer and matched control colorectal cancer patients. [electronic resource] by
- Nielsen, Maartje
- van Steenbergen, Liza N
- Jones, Natalie
- Vogt, Stefanie
- Vasen, Hans F A
- Morreau, Hans
- Aretz, Stefan
- Sampson, Julian R
- Dekkers, Olaf M
- Janssen-Heijnen, Maryska L G
- Hes, Frederik J
Producer: 20101214
In:
Journal of the National Cancer Institute vol. 102
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Succinate Dehydrogenase (SDH)-Deficient Pancreatic Neuroendocrine Tumor Expands the SDH-Related Tumor Spectrum. [electronic resource] by
- Niemeijer, Nicolasine D
- Papathomas, Thomas G
- Korpershoek, Esther
- de Krijger, Ronald R
- Oudijk, Lindsey
- Morreau, Hans
- Bayley, Jean-Pierre
- Hes, Frederik J
- Jansen, Jeroen C
- Dinjens, Winand N M
- Corssmit, Eleonora P M
Producer: 20160113
In:
The Journal of clinical endocrinology and metabolism vol. 100
Availability: No items available.
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