Results
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Genetic modifiers of CHEK2*1100delC-associated breast cancer risk. [electronic resource] by
- Muranen, Taru A
- Greco, Dario
- Blomqvist, Carl
- Aittomäki, Kristiina
- Khan, Sofia
- Hogervorst, Frans
- Verhoef, Senno
- Pharoah, Paul D P
- Dunning, Alison M
- Shah, Mitul
- Luben, Robert
- Bojesen, Stig E
- Nordestgaard, Børge G
- Schoemaker, Minouk
- Swerdlow, Anthony
- García-Closas, Montserrat
- Figueroa, Jonine
- Dörk, Thilo
- Bogdanova, Natalia V
- Hall, Per
- Li, Jingmei
- Khusnutdinova, Elza
- Bermisheva, Marina
- Kristensen, Vessela
- Borresen-Dale, Anne-Lise
- Peto, Julian
- Dos Santos Silva, Isabel
- Couch, Fergus J
- Olson, Janet E
- Hillemans, Peter
- Park-Simon, Tjoung-Won
- Brauch, Hiltrud
- Hamann, Ute
- Burwinkel, Barbara
- Marme, Frederik
- Meindl, Alfons
- Schmutzler, Rita K
- Cox, Angela
- Cross, Simon S
- Sawyer, Elinor J
- Tomlinson, Ian
- Lambrechts, Diether
- Moisse, Matthieu
- Lindblom, Annika
- Margolin, Sara
- Hollestelle, Antoinette
- Martens, John W M
- Fasching, Peter A
- Beckmann, Matthias W
- Andrulis, Irene L
- Knight, Julia A
- Anton-Culver, Hoda
- Ziogas, Argyrios
- Giles, Graham G
- Milne, Roger L
- Brenner, Hermann
- Arndt, Volker
- Mannermaa, Arto
- Kosma, Veli-Matti
- Chang-Claude, Jenny
- Rudolph, Anja
- Devilee, Peter
- Seynaeve, Caroline
- Hopper, John L
- Southey, Melissa C
- John, Esther M
- Whittemore, Alice S
- Bolla, Manjeet K
- Wang, Qin
- Michailidou, Kyriaki
- Dennis, Joe
- Easton, Douglas F
- Schmidt, Marjanka K
- Nevanlinna, Heli
Producer: 20180116
In:
Genetics in medicine : official journal of the American College of Medical Genetics vol. 19
Availability: No items available.
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46.
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A familial case of severe infantile nephronophthisis explained by oligogenic inheritance. [electronic resource] by
- Penchev, Valentin
- Boueva, Anelia
- Kamenarova, Kunka
- Roussinov, Dimitar
- Tzveova, Reni
- Ivanova, Mariya
- Dimitrova, Violeta
- Kremensky, Ivo
- Mitev, Vanio
- Kaneva, Radka
- Beltcheva, Olga
Producer: 20170807
In:
European journal of medical genetics vol. 60
Availability: No items available.
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Deep characterization of a common D4Z4 variant identifies biallelic DUX4 expression as a modifier for disease penetrance in FSHD2. [electronic resource] by
- Lemmers, Richard Jlf
- van der Vliet, Patrick J
- Balog, Judit
- Goeman, Jelle J
- Arindrarto, Wibowo
- Krom, Yvonne D
- Straasheijm, Kirsten R
- Debipersad, Rashmie D
- Özel, Gizem
- Sowden, Janet
- Snider, Lauren
- Mul, Karlien
- Sacconi, Sabrina
- van Engelen, Baziel
- Tapscott, Stephen J
- Tawil, Rabi
- van der Maarel, Silvère M
Producer: 20181211
In:
European journal of human genetics : EJHG vol. 26
Availability: No items available.
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Analysis of the GCG repeat length in NIPA1 gene in C9orf72-mediated ALS in a large Italian ALS cohort. [electronic resource] by
- Corrado, Lucia
- Brunetti, Maura
- Di Pierro, Alice
- Barberis, Marco
- Croce, Roberta
- Bersano, Enrica
- De Marchi, Fabiola
- Zuccalà, Miriam
- Barizzone, Nadia
- Calvo, Andrea
- Moglia, Cristina
- Mazzini, Letizia
- Chiò, Adriano
- D'Alfonso, Sandra
Producer: 20200427
In:
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology vol. 40
Availability: No items available.
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