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RING 14 NON-PROFIT ASSOCIATION
HELP AND RESEARCH FOR CHILDREN WITH RARE GENETIC DISEASES

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SCIENTIFIC PUBLICATION

We consider it very important to combine research and information sharing, in terms of scientific publications and our participation at conventions. The publication of our studies at an international level and in specialized reviews is vital, in order to spread the results among the scientific community and to attract attention on our syndrome.
In all the publications we support, we request that our logo and our references appear, because they can represent an important channel to make ourselves known by families in the world, who are still “alone”.

Publications and participations supported by RING14

Documents

Linguistic and psychomotor development in children with chromosome 14 deletions (452 KB)
Epilepsy in ring 14 syndrome: A clinical and EEG study of 22 patients (646 KB)
Linguistic and psychomotor development in children with chromosome 14 deletions 2012 (452 KB)
Linguistic and Psychomotor Development in Children with Chromosome 14 Deletions (111 KB)
EUROPEAN JOURNAL OF MEDICAL GENETICS (583 KB)
Poster Telethon Biobank (1.2 MB)
Linguistic skills in Italian children with chromosome 14 aberrations (199 KB)
Linguistic skills in Italian children with chromosome 14 aberrations (44 KB)
Epileptic Disorder 2010 (598 KB)
Description of a "state of epileptic disorder" in a children with RING14. The study has been fund by RING14 and made by our researcher in years 2007-2009.
American Journal 2009 (4.5 MB)
Study fund by RING14 made by our researcher in years 2005-2008.
Epilepsy is the major manifestation in the Ring14 (319 KB)
Poster presented by prof. Neri at 30th Annual David W.Smith Workshop on Malformations and Morphogenesis.
5-9 August 2009, Philadelphia
"The Stories of our children”.Stories combining (1.0 MB)
Poster presented at Meeting Medicina Narrativa e Malattie Rare, held in Rome at the Istituto Superiore di Sanità on 26 June 2009.
Abstract presented at Congresso Medicina Narrativa e Malattie Rare (14.0 KB)
Istituto Superiore di Sanità - Roma, 26 June 2009
International Association Ring14 (84 KB)
Poster presented at 1° Congresso delle Associazioni Amiche di Telethon, Riva del garda, 10 march 2009
Neurolinguistic profile in syndromes of chromosome 14 (3.9 MB)
Comunication presented at 'Giornate di Neuropsicologia dell'Età Evolutiva' 21-24 January 2009, Brixen.
Neurolinguistic profile in syndromes of chromosome 14 (105 KB)
Poster presented at 'Giornate di Neuropsicologia dell'Età Evolutiva' 21-24 January 2009, Brixen.
Epilepsy in Ring 14 syndrome (20 MB)
Presentation of doctor Giovannini (23 Maggio 08, Università Cattolica del Sacro Cuore)
The problem behavior is a message (64 KB)
Poster presented at VI Congresso Nazionale S.I.R.M. (Modena, dicembre 2008)
THE RING 14 SYNDROME: CLINICAL AND MOLECULAR DEFINITION OF A RARE CONDITION (6.2 MB)
Poster presented by prof. Neri in a International meeting in Canada (august 2008).
THE RING14 SYNDROME: CLINIC-GENETICS DATA (2.1 MB)
Thesis of PHD in Genetica Molecolare. D.ssa Laura Seminara Accademic Year 2007-2008, Università Cattolica del Sacro Cuore.
THE RING14 SYNDROME: CLINICS AND REHABILITATIVE ASPECTS (225 KB)
Final script of 'Corso di laurea in scienze Piscologiche Cognitive e Psicobiologiche'
The chromosopathy "ring(14)" (37 KB)
The chromosopathy "ring(14)": clinical-genetic study with production of the preliminary results and of the dedicated data-base
Abstract introduced to the National XXXIII Congress of the Italian Society of Pediatric Neurology
The "chromosome 14 ring" syndrome (73 KB)
Thesis of high school
BASAL GENETIC DEFECT (121 KB)
BASAL GENETIC DEFECT IN CHROMOSOME RING14 SYNDROME AND IN PARTIAL 14q DELETIONS - ABSTRACT
NURSING CARE AT CHILDREN AFFECTED BY RING 14 SYNDROME (109 KB)
Thesis of 'Corso di Laurea in Infermieristica Sede Reggio Emilia'.
THE CHROMOSOME 14 RING SYNDROME: CLINICS AND GENETICS - ABSTRACT (5.9 KB)
Abstract presented at Congresso of S.I.G.U., 2005.
THE CHROMOSOME 14 RING SYNDROME: CLINICS AND GENETICS - POSTER (372 KB)
Poster presented at Congresso of S.I.G.U., 2005.
THE CHROMOSOME 14 RING SYNDROME: CLINICS AND GENETICS - ABSTRACT (313 KB)
Abstract presented at 7° Congresso Nazionale S.I.G.U. (Società Italiana Genetica Umana), Pisa-Ottobre 2004.
THE CHROMOSOME 14 RING SYNDROME: CLINICS AND GENETICS - POSTER (731 KB)
Poster presented at 7° Congresso Nazionale S.I.G.U. (Società Italiana Genetica Umana), Pisa-Ottobre 2004.

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