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Volume 87; Issue 6
Main
Clinical Genetics
Volume 87; Issue 6
Clinical Genetics
Volume 87; Issue 6
1
BRCA2 gene: a candidate for clinical testing in familial colorectal cancer type X
Garre, P.
,
Martín, L.
,
Sanz, J.
,
Romero, A.
,
Tosar, A.
,
Bando, I.
,
Llovet, P.
,
Diaque, P.
,
García-Paredes, B.
,
Díaz-Rubio, E.
,
de la Hoya, M.
,
Caldés, T.
Journal:
Clinical Genetics
Year:
2015
Language:
english
File:
PDF, 587 KB
Your tags:
english, 2015
2
Genetic testing for sporadic hearing loss using targeted massively parallel sequencing identifies 10 novel mutations
Gu, X.
,
Guo, L.
,
Ji, H.
,
Sun, S.
,
Chai, R.
,
Wang, L.
,
Li, H.
Journal:
Clinical Genetics
Year:
2015
Language:
english
File:
PDF, 255 KB
Your tags:
english, 2015
3
Detecting somatic mosaicism: considerations and clinical implications
Cohen, A.S.A.
,
Wilson, S.L.
,
Trinh, J.
,
Ye, X.C.
Journal:
Clinical Genetics
Year:
2015
Language:
english
File:
PDF, 318 KB
Your tags:
english, 2015
4
Bioinformatics evaluation of NPHS2 deletion mutation associated with congenital nephrotic syndrome in a consanguineous Pakistani family
Hameed, A.
,
Mir, A.
,
Nasir, M.
,
Ajmal, M.
Journal:
Clinical Genetics
Year:
2015
Language:
english
File:
PDF, 102 KB
Your tags:
english, 2015
5
Help or hindrance: young people's experiences of predictive testing for Huntington's disease
Forrest Keenan, K.
,
McKee, L.
,
Miedzybrodzka, Z.
Journal:
Clinical Genetics
Year:
2015
Language:
english
File:
PDF, 533 KB
Your tags:
english, 2015
6
Characterization of a novel founder MSH6 mutation causing Lynch syndrome in the French Canadian population
Castellsagué, E.
,
Liu, J.
,
Volenik, A.
,
Giroux, S.
,
Gagné, R.
,
Maranda, B.
,
Roussel-Jobin, A.
,
Latreille, J.
,
Laframboise, R.
,
Palma, L.
,
Kasprzak, L.
,
Marcus, V.A.
,
Breguet, M.
,
Nolet, S.
,
El-Haffaf,
Journal:
Clinical Genetics
Year:
2015
Language:
english
File:
PDF, 317 KB
Your tags:
english, 2015
7
Methylmalonic aciduria cblB type: characterization of two novel mutations and mitochondrial dysfunction studies
Brasil, S.
,
Richard, E.
,
Jorge-Finnigan, A.
,
Leal, F.
,
Merinero, B.
,
Banerjee, R.
,
Desviat, L.R.
,
Ugarte, M.
,
Pérez, B.
Journal:
Clinical Genetics
Year:
2015
Language:
english
File:
PDF, 742 KB
Your tags:
english, 2015
8
Mismatch repair genes founder mutations and cancer susceptibility in Lynch syndrome
Ponti, G.
,
Castellsagué, E.
,
Ruini, C.
,
Percesepe, A.
,
Tomasi, A.
Journal:
Clinical Genetics
Year:
2015
Language:
english
File:
PDF, 879 KB
Your tags:
english, 2015
9
Improving the uptake of predictive testing and colorectal screening in Lynch syndrome: a regional primary care survey
Barrow, P.
,
Green, K.
,
Clancy, T.
,
Lalloo, F.
,
Hill, J.
,
Evans, D.G.
Journal:
Clinical Genetics
Year:
2015
Language:
english
File:
PDF, 642 KB
Your tags:
english, 2015
10
Genetic features of Lynch syndrome in the Israeli population
Goldberg, Y.
,
Barnes-Kedar, I.
,
Lerer, I.
,
Halpern, N.
,
Plesser, M.
,
Hubert, A.
,
Kadouri, L.
,
Goldshmidt, H.
,
Solar, I.
,
Strul, H.
,
Rosner, G.
,
Baris, H.N.
,
Peretz, T.
,
Levi, Z.
,
Kariv, R.
Journal:
Clinical Genetics
Year:
2015
Language:
english
File:
PDF, 588 KB
Your tags:
english, 2015
11
Establishing cancer risks associated with PMS2 germline mutations in Lynch syndrome
Caron, N. S.
Journal:
Clinical Genetics
Year:
2015
Language:
english
File:
PDF, 48 KB
Your tags:
english, 2015
12
Determination of the allelic frequency in Smith-Lemli-Opitz syndrome by analysis of massively parallel sequencing data sets
Cross, J.L.
,
Iben, J.
,
Simpson, C.L.
,
Thurm, A.
,
Swedo, S.
,
Tierney, E.
,
Bailey-Wilson, J.E.
,
Biesecker, L.G.
,
Porter, F.D.
,
Wassif, C.A.
Journal:
Clinical Genetics
Year:
2015
Language:
english
File:
PDF, 1.05 MB
Your tags:
english, 2015
13
Lynch syndrome: five unanswered questions
Castellsagué, E.
,
Foulkes, W.D.
Journal:
Clinical Genetics
Year:
2015
Language:
english
File:
PDF, 355 KB
Your tags:
english, 2015
14
Origin of MLH1 , MSH2 , MSH6 and PMS2 mutations can help inform long-term care strategies for patients with colorectal and endometrial cancer
Hickmott, J. W.
Journal:
Clinical Genetics
Year:
2015
Language:
english
File:
PDF, 287 KB
Your tags:
english, 2015
15
A cohort study of MFN2 mutations and phenotypic spectrums in Charcot-Marie-Tooth disease 2A patients
Choi, B.-O.
,
Nakhro, K.
,
Park, H.J.
,
Hyun, Y.S.
,
Lee, J.H.
,
Kanwal, S.
,
Jung, S.-C.
,
Chung, K.W.
Journal:
Clinical Genetics
Year:
2015
Language:
english
File:
PDF, 621 KB
Your tags:
english, 2015
16
Detailed characterization of MLH1 p.D41H and p.N710D variants coexisting in a Lynch syndrome family with conserved MLH1 expression tumors
Pineda, M.
,
González-Acosta, M.
,
Thompson, B.A.
,
Sánchez, R.
,
Gómez, C.
,
Martínez-López, J.
,
Perea, J.
,
Caldés, T.
,
Rodríguez, Y.
,
Landolfi, S.
,
Balmaña, J.
,
Lázaro, C.
,
Robles, L.
,
Capellá, G.
,
Rueda
Journal:
Clinical Genetics
Year:
2015
Language:
english
File:
PDF, 512 KB
Your tags:
english, 2015
17
Long-term psychosocial and behavioral adjustment in individuals receiving genetic test results in Lynch syndrome
Esplen, M.J.
,
Wong, J.
,
Aronson, M.
,
Butler, K.
,
Rothenmund, H.
,
Semotiuk, K.
,
Madlensky, L.
,
Way, C.
,
Dicks, E.
,
Green, J.
,
Gallinger, S.
Journal:
Clinical Genetics
Year:
2015
Language:
english
File:
PDF, 229 KB
Your tags:
english, 2015
18
Exome sequencing as a differential diagnosis tool: resolving mild trichohepatoenteric syndrome
Oz-Levi, D.
,
Weiss, B.
,
Lahad, A.
,
Greenberger, S.
,
Pode-Shakked, B.
,
Somech, R.
,
Olender, T.
,
Tatarsky, P.
,
Marek-Yagel, D.
,
Pras, E.
,
Anikster, Y.
,
Lancet, D.
Journal:
Clinical Genetics
Year:
2015
Language:
english
File:
PDF, 301 KB
Your tags:
english, 2015
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