Celli, Jacopo: search on Z-Library

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1

Low-Density Lipoprotein Receptor Gene Familial Hypercholesterolemia Variant Database: Update and Pathological Assessment

Ebele Usifo, Sarah E. A. Leigh, Ros A. Whittall, Nicholas Lench, Alison Taylor, Corin Yeats, Christine A. Orengo, Andrew C. R. Martin, Jacopo Celli, Steve E. Humphries

Journal:

Annals of Human Genetics

Year:

2012

Language:

english

File:

PDF, 1.19 MB

english, 2012

2

Familial Syndromic Esophageal Atresia Maps to 2p23-p24

Jacopo Celli, Ellen van Beusekom, Raoul C.M. Hennekam, M. Esther Gallardo, Dominique F.C.M. Smeets, Santiago Rodríguez de Córdoba, Jeffrey W. Innis, Moshe Frydman, Rainer König, Helen Kingston, John T

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 1.03 MB

english, 2000

3

The Human Serotonin Type 3 Receptor Gene ( HTR3A-E ) Allelic Variant Database

Celli, Jacopo, Rappold, Gudrun, Niesler, Beate

Journal:

Year:

2016

Language:

english

File:

PDF, 1.23 MB

english, 2016

4

Feingold syndrome: Clinical review and genetic mapping

Jacopo Celli, Hans van Bokhoven, Han G. Brunner

Journal:

American Journal of Medical Genetics Part A

Year:

2003

Language:

english

File:

PDF, 174 KB

english, 2003

5

MYCN haploinsufficiency is associated with reduced brain size and intestinal atresias in Feingold syndrome

van Bokhoven, Hans, Celli, Jacopo, van Reeuwijk, Jeroen, Rinne, Tuula, Glaudemans, Bob, van Beusekom, Ellen, Rieu, Paul, Newbury-Ecob, Ruth A, Chiang, Chin, Brunner, Han G

Journal:

Nature Genetics

Year:

2005

Language:

english

File:

PDF, 179 KB

english, 2005

6

Curating gene variant databases (LSDBs): Toward a universal standard

Jacopo Celli, Raymond Dalgleish, Mauno Vihinen, Peter E.M. Taschner, Johan T. den Dunnen

Journal:

Year:

2012

Language:

english

File:

PDF, 343 KB

english, 2012

7

Genetics of gastrointestinal atresias

Journal:

European Journal of Medical Genetics

Year:

2014

Language:

english

File:

PDF, 663 KB

english, 2014

8

p63 Gene Mutations in EEC Syndrome, Limb-Mammary Syndrome, and Isolated Split Hand–Split Foot Malformation Suggest a Genotype-Phenotype Correlation

Hans van Bokhoven, Ben C.J. Hamel, Mike Bamshad, Eugenio Sangiorgi, Fiorella Gurrieri, Pascal H.G. Duijf, Kaate R.J. Vanmolkot, Ellen van Beusekom, Sylvia E.C. van Beersum, Jacopo Celli, Gerard F.M. M

Journal:

The American Journal of Human Genetics

Year:

2001

Language:

english

File:

PDF, 244 KB

english, 2001

9

Mutation update for the PORCN gene

Maria Paola Lombardi, Saskia Bulk, Jacopo Celli, Anne Lampe, Michael T. Gabbett, Lillian Bomme Ousager, Jasper J. van der Smagt, Maria Soller, Eva-Lena Stattin, Marcel A.M.M. Mannens, Robert Smigiel,

Journal:

Year:

2011

Language:

english

File:

PDF, 225 KB

english, 2011

10

10.1038/78113

Brunner, Han G., van Bokhoven, Hans, Celli, Jacopo, Kayserili, Hülya, van Beusekom, Ellen, Balci, Sevim, Brussel, Wim, Skovby, Flemming, Kerr, Bronwyn, Percin, E. Ferda, Akarsu, Nurten

Journal:

Nature Genetics

Year:

2000

Language:

english

File:

PDF, 319 KB

english, 2000

11

Mutations in the O-Mannosyltransferase Gene POMT1 Give Rise to the Severe Neuronal Migration Disorder Walker-Warburg Syndrome

Daniel Beltrán-Valero de Bernabé, Sophie Currier, Alice Steinbrecher, Jacopo Celli, Ellen van Beusekom, Bert van der Zwaag, Hülya Kayserili, Luciano Merlini, David Chitayat, William B. Dobyns, Bru Cor

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 741 KB

english, 2002

12

Heterozygous Germline Mutations in the p53 Homolog p63 Are the Cause of EEC Syndrome

Jacopo Celli, Pascal Duijf, Ben C.J Hamel, Michael Bamshad, Bridget Kramer, Arie P.T Smits, Ruth Newbury-Ecob, Raoul C.M Hennekam, Griet Van Buggenhout, Arie van Haeringen, C.Geoffrey Woods, Anthonie

Journal:

Year:

1999

Language:

english

File:

PDF, 374 KB

english, 1999

13

Terminal Osseous Dysplasia Is Caused by a Single Recurrent Mutation in the FLNA Gene

Yu Sun, Rowida Almomani, Emmelien Aten, Jacopo Celli, Jaap van der Heijden, Hanka Venselaar, Stephen P. Robertson, Anna Baroncini, Brunella Franco, Lina Basel-Vanagaite, Emiko Horii, Ricardo Drut, Yav

Journal:

The American Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 689 KB

english, 2010

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