Zeitschrift für genetische Syndrome und Gentherapie

Zeitschrift für genetische Syndrome und Gentherapie
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ISSN: ISSN: 2157-7412

Volumen 7, Ausgabe 1 (2016)

Tagungsband

Report: Fourth International Workshop for Glycosylation Defects in Muscular Dystrophies

Anthony Blaeser, Amy Harper, Kevin Campbell and Qi Long Lu

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Forschungsartikel

Association of Superoxide Dismutase 2 Polymorphism Rs4880 and Open-Angle Glaucoma in a Greek Patients Cohort

Anastasios Lavaris, Maria Gazouli, Georgios Kitsos, Dimitrios Brouzas and Marilita M Moschos

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Rezensionsartikel

Natural Compounds as Therapeutic Agents in the Treatment Cystic Fibrosis

Isha Dey, Kalpit Shah and Neil A Bradbury

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Fallbericht

Two Familial Cases of Robertsonian Transloacations 13; 14 and Its Clinical Consequences

Sushil Kumar Jaiswal, Aishvarya Upadhyay, Akhtar Ali, Shashi Kala Upadhyay, Ashok Kumar and Amit Kumar Rai

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Fallbericht

Normal Child by a Gestational Carrier of a Phenylketonuria (PKU) Mother-An Alternative to Diet

PiNian Chang and Robert O Fisch

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Fallbericht

Polyposis Caused by Low APC Mosaicism

Ariel A Benson, Brian H Shirts, Angela Jacobson, Colin C Pritchard, Tom Walsh, Harold Jacob and Yael Goldberg

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Forschungsartikel

Cytogenetic Study of Down Syndrome In Algeria: Report and Review

Fayza Belmokhtar, Rahma Belmokhtar and Ahmed Kerfouf

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Forschungsartikel

Detecting Psychiatric Profile in Genetic Syndromes: A Comparison of Down Syndrome and Williams Syndrome

Stefano Vicari, Floriana Costanzo, Marco Armando, Giovanni Carbonara, Pamela Varvara, Cristina Caciolo, Chiara Gagliardi, Tiziana Gianesini, Paolo Alfieri, Rossella Capolino and Deny Menghini

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Forschungsartikel

Hepatoblastoma and microRNA-483 Two Forms and One Outcome

Marco Salvatore, Armando Magrelli, Valentini Flamini, Andrea Brunati, Eleonora Basso, Renato Romagnoli, Ezio David and Domenica Taruscio

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Forschungsartikel

Easychip 8x15k: A New Tool for Detecting Chromosome Anomalies in Low Risk Pregnancies, Supporting and Integrating Standard Karyotype

Viola Alesi, Laura Bernardini, Didier Goidin, Michela Canestrelli, Maria Lisa Dentici, Giuseppe Barrano, Maria Grazia Giuffrida, Anna Maria Nardone, Diana Postorivo, Luigi Laino, Rita Genesio, Bruno Dallapiccola and Antonio Novelli

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