books search
books
articles search
articles
Donate
Log In
Log In
to access more features
personal recommendations
Telegram Bot
download history
send to Email or Kindle
manage booklists
save to favorites
Explore
Journals
Contribution
Donate
Litera Library
Donate paper books
Add paper books
Open LITERA Point
Volume 85; Issue 3
Main
Clinical Genetics
Volume 85; Issue 3
Clinical Genetics
Volume 85; Issue 3
1
Molecular and clinical characterization of Angelman syndrome in Chinese patients
Bai, J.-L.
,
Qu, Y.-J.
,
Jin, Y.-W.
,
Wang, H.
,
Yang, Y.-L.
,
Jiang, Y.-W.
,
Yang, X.-Y.
,
Zou, L.-P.
,
Song, F.
Journal:
Clinical Genetics
Year:
2014
Language:
english
File:
PDF, 566 KB
Your tags:
english, 2014
2
Molecular characterization of 39 de novo sSMC: contribution to prognosis and genetic counselling, a prospective study
Marle, N.
,
Martinet, D.
,
Aboura, A.
,
Joly-Helas, G.
,
Andrieux, J.
,
Flori, E.
,
Puechberty, J.
,
Vialard, F.
,
Sanlaville, D.
,
Fert Ferrer, S.
,
Bourrouillou, G.
,
Tabet, A.C.
,
Quilichini, B.
,
Simon-Bouy, B
Journal:
Clinical Genetics
Year:
2014
Language:
english
File:
PDF, 637 KB
Your tags:
english, 2014
3
Identification of a founder EPCAM deletion in Spanish Lynch syndrome families
Mur, P.
,
Pineda, M.
,
Romero, A.
,
del Valle, J.
,
Borràs, E.
,
Canal, A.
,
Navarro, M.
,
Brunet, J.
,
Rueda, D.
,
Ramón y Cajal, T.
,
Lázaro, C.
,
Caldés, T.
,
Blanco, I.
,
Soto, J.L.
,
Capellá, G.
Journal:
Clinical Genetics
Year:
2014
Language:
english
File:
PDF, 547 KB
Your tags:
english, 2014
4
Recurrent mutation in the PIEZO1 gene in two families of hereditary xerocytosis with fetal hydrops
Beneteau, C.
,
Thierry, G.
,
Blesson, S.
,
Le Vaillant, C.
,
Picard, V.
,
Béné, M.C.
,
Eveillard, M.
,
Le Caignec, C.
Journal:
Clinical Genetics
Year:
2014
Language:
english
File:
PDF, 547 KB
Your tags:
english, 2014
5
Gonadal mosaicism as a rare cause of autosomal recessive inheritance
Anazi, S.
,
Al-Sabban, E.
,
Alkuraya, F.S.
Journal:
Clinical Genetics
Year:
2014
Language:
english
File:
PDF, 587 KB
Your tags:
english, 2014
6
A family with fragile X syndrome, Duchenne muscular dystrophy and ichthyosis transmitted by an asymptomatic carrier
Todorova, A.
,
Litvinenko, I.
,
Todorov, T.
,
Tincheva, R.
,
Avdjieva, D.
,
Tincheva, S.
,
Mitev, V.
Journal:
Clinical Genetics
Year:
2014
Language:
english
File:
PDF, 582 KB
Your tags:
english, 2014
7
Polydactyly: phenotypes, genetics and classification
Malik, S.
Journal:
Clinical Genetics
Year:
2014
Language:
english
File:
PDF, 823 KB
Your tags:
english, 2014
8
Cholesterol metabolism is a potential therapeutic target for Rett syndrome
Patankar, J.V.
Journal:
Clinical Genetics
Year:
2014
Language:
english
File:
PDF, 466 KB
Your tags:
english, 2014
9
Communication and technology in genetic counseling for familial cancer
Lynch, H.T.
,
Snyder, C.
,
Stacey, M.
,
Olson, B.
,
Peterson, S.K.
,
Buxbaum, S.
,
Shaw, T.
,
Lynch, P.M.
Journal:
Clinical Genetics
Year:
2014
Language:
english
File:
PDF, 762 KB
Your tags:
english, 2014
10
A novel frameshift mutation of C19ORF12 causes NBIA4 with cerebellar atrophy and manifests with severe peripheral motor axonal neuropathy
Schottmann, G.
,
Stenzel, W.
,
Lützkendorf, S.
,
Schuelke, M.
,
Knierim, E.
Journal:
Clinical Genetics
Year:
2014
Language:
english
File:
PDF, 768 KB
Your tags:
english, 2014
11
BRCA1 and BRCA2 - update and implications on the genetics of breast cancer: a clinical perspective
Journal:
Clinical Genetics
Year:
2014
Language:
english
File:
PDF, 448 KB
Your tags:
english, 2014
12
Novel cilia-dependent pathway activates rapid cyst growth in autosomal dominant polycystic kidney disease
Patankar, J.V.
Journal:
Clinical Genetics
Year:
2014
Language:
english
File:
PDF, 563 KB
Your tags:
english, 2014
13
Further genotype-phenotype correlation emerging from two families with PLP1 exon 4 skipping
Biancheri, Roberta
,
Grossi, Serena
,
Regis, Stefano
,
Rossi, Andrea
,
Corsolini, Fabio
,
Rossi, Daniela Paola
,
Cavalli, Pietro
,
Severino, Mariasavina
,
Filocamo, Mirella
Journal:
Clinical Genetics
Year:
2014
Language:
english
File:
PDF, 622 KB
Your tags:
english, 2014
14
Familial clustering and genetic heterogeneity in Meniere's disease
Requena, T.
,
Espinosa-Sanchez, J.M.
,
Cabrera, S.
,
Trinidad, G.
,
Soto-Varela, A.
,
Santos-Perez, S.
,
Teggi, R.
,
Perez, P.
,
Batuecas-Caletrio, A.
,
Fraile, J.
,
Aran, I.
,
Martin, E.
,
Benitez, J.
,
Pérez-Fer
Journal:
Clinical Genetics
Year:
2014
Language:
english
File:
PDF, 614 KB
Your tags:
english, 2014
15
Regional differences in the frequency of the c.985A>G ACADM mutation: findings from a meta-regression of genotyping and screening studies
Leal, J.
,
Ades, A.E.
,
Wordsworth, S.
,
Dezateux, C.
Journal:
Clinical Genetics
Year:
2014
Language:
english
File:
PDF, 544 KB
Your tags:
english, 2014
16
Autosomal dominant PIK3R1 mutations cause SHORT syndrome
Chung, B.K.
,
Gibson, W.T.
Journal:
Clinical Genetics
Year:
2014
Language:
english
File:
PDF, 471 KB
Your tags:
english, 2014
17
Novel ceruloplasmin mutation causing aceruloplasminemia with hepatic iron overload and diabetes without neurological symptoms
Rusticeanu, M.
,
Zimmer, V.
,
Schleithoff, L.
,
Wonney, K.
,
Viera, J.
,
Zimmer, A.
,
Hübschen, U.
,
Bohle, R.M.
,
Grünhage, F.
,
Lammert, F.
Journal:
Clinical Genetics
Year:
2014
Language:
english
File:
PDF, 596 KB
Your tags:
english, 2014
18
Genome-wide androgenetic mosaicism
Johnson, J.P.
,
Waterson, J.
,
Schwanke, C.
,
Schoof, J.
Journal:
Clinical Genetics
Year:
2014
Language:
english
File:
PDF, 662 KB
Your tags:
english, 2014
19
Disfluency: it is not always stuttering
Cosyns, M.
,
van Zaalen, Y.
,
Mortier, G.
,
Janssens, S.
,
Amez, A.
,
Van Damme, J.
,
Van Borsel, J.
Journal:
Clinical Genetics
Year:
2014
Language:
english
File:
PDF, 473 KB
Your tags:
english, 2014
20
What is a biobank? Differing definitions among biobank stakeholders
Shaw, D.M.
,
Elger, B.S.
,
Colledge, F.
Journal:
Clinical Genetics
Year:
2014
Language:
english
File:
PDF, 490 KB
Your tags:
english, 2014
21
Exome sequencing reveals a novel ANO10 mutation in a Japanese patient with autosomal recessive spinocerebellar ataxia
Maruyama, H.
,
Morino, H.
,
Miyamoto, R.
,
Murakami, N.
,
Hamano, T.
,
Kawakami, H.
Journal:
Clinical Genetics
Year:
2014
Language:
english
File:
PDF, 506 KB
Your tags:
english, 2014
1
Follow
this link
or find "@BotFather" bot on Telegram
2
Send /newbot command
3
Specify a name for your chatbot
4
Choose a username for the bot
5
Copy an entire last message from BotFather and paste it here
×
×