Works matching IS 16618769 AND DT 2018 AND VI 9 AND IP 5

Results: 10

Microcephaly/Trigonocephaly, Intellectual Disability, Autism Spectrum Disorder, and Atypical Dysmorphic Features in a Boy with Xp22.31 Duplication.

Published in:

Molecular Syndromology, 2018, v. 9, n. 5, p. 253, doi. 10.1159/000493174

By:

Pavone, Piero;
Corsello, Giovanni;
Marino, Silvia;
Ruggieri, Martino;
Falsaperla, Raffaele

Publication type:

Article

Front & Back Matter.

Published in:: Molecular Syndromology, 2018, v. 9, n. 5, p. N.PAG, doi. 10.1159/000495224
Publication type:: Article

Michael Schmid (1948-2018): A Life Devoted to Science.

Published in:

2018

By:

Höhn, Holger

Publication type:

Obituary

Interstitial Deletion of 5q22.2q23.1 Including APC and TSSK1B in a Patient with Adenomatous Polyposis and Asthenoteratozoospermia.

Published in:

Molecular Syndromology, 2018, v. 9, n. 5, p. 235, doi. 10.1159/000492516

By:

Kadiyska, Tanya;
Tourtourikov, Ivan;
Petrov, asen;
Chavoushian, ani;
antalavicheva, Miglena;
König, Eva-Maria;
Klopocki, Eva;
Vessela, Nikolova;
Stanislavov, Romil

Publication type:

Article

The Right Gene, Expressed at the Wrong Time, or at the Wrong Place.

Published in:

2018

By:

Poot, Martin

Publication type:

Editorial

A Novel GDF6 Mutation in a Family with Multiple Synostoses Syndrome without Hearing Loss.

Published in:

Molecular Syndromology, 2018, v. 9, n. 5, p. 228, doi. 10.1159/000492418

By:

Drage Berentsen, Ragnhild;
Haukanes, Bjørn I.;
Júlíusson, Pétur B.;
Rosendahl, Karen;
Houge, Gunnar

Publication type:

Article

Could Dissimilar Phenotypic Effects of ACTB Missense Mutations Reflect the Actin Conformational Change Two Novel Mutations and Literature Review.

Published in:

Molecular Syndromology, 2018, v. 9, n. 5, p. 259, doi. 10.1159/000492267

By:

Sandestig, anna;
Green, anna;
Jonasson, Jon;
Vogt, Hartmut;
Wahlström, Johan;
Pepler, alexander;
Ellnebo, Katarina;
Biskup, Saskia;
Stefanova, Margarita

Publication type:

Article

Identification of an Autosomal Dominant Mutation in the COL2A1 Gene Leading to Spondyloepiphyseal Dysplasia Congenita in a Greek Family.

Published in:

Molecular Syndromology, 2018, v. 9, n. 5, p. 241, doi. 10.1159/000492190

By:

Dikaiakou, Εirini;
Vlachopapadopoulou, Εlpis a.;
Manolakos, Emanouil;
Samelis, Panagiotis;
Margariti, Rodanthi;
Zampakides, Christos;
Michalacos, Stefanos

Publication type:

Article

An Interstitial 17q11.2 de novo Deletion Involving the CDK5R1 Gene in a High-Functioning Autistic Patient.

Published in:

Molecular Syndromology, 2018, v. 9, n. 5, p. 247, doi. 10.1159/000491802

By:

Lintas, Carla;
Sacco, Roberto;
Tabolacci, Claudio;
Brogna, Claudia;
Canali, Marco;
Picinelli, Chiara;
Tomaiuolo, Pasquale;
Castronovo, Paola;
Baccarin, Marco;
Persico, antonio M.

Publication type:

Article

A Novel Mutation of KIF11 in a Child with 22q11.2 Deletion Syndrome Associated with MCLMR.

Published in:

Molecular Syndromology, 2018, v. 9, n. 5, p. 266, doi. 10.1159/000491568

By:

Güneş, Nilay;
Taşdemir, Emre;
Jeffery, Heather;
Yetik, Hüseyin;
Ostergaard, Pia;
Tüysüz, Beyhan

Publication type:

Article