Rare LRP6 Variants Identified in Spina Bifida Patients

By  

HUMAN MUTATION, Vol. 36, Iss. 3, 2015-03 ,pp. : 342-349

John Wiley & Sons Inc

Access to resources Recommend Favorite

Human progeroid syndromes, aging and cancer: new genetic and epigenetic insights into old questions

By Ramírez C.   Cadiñanos J.   Varela I.   Freije J.   López-Otín C.  

Cellular and Molecular Life Sciences CMLS, Vol. 64, Iss. 2, 2007-01 ,pp. : 155-170

Springer Publishing Company

Access to resources Recommend Favorite

Functional Testing of SLC26A4 Variants—Clinical and Molecular Analysis of a Cohort with Enlarged Vestibular Aqueduct from Austria

By Roesch Sebastian   Bernardinelli Emanuele   Nofziger Charity   Tóth Miklós   Patsch Wolfgang   Rasp Gerd   Paulmichl Markus   Dossena Silvia  

International Journal of Molecular Sciences, Vol. 19, Iss. 1, 2018-01 ,pp. : 209-209

MDPI

Access to resources Recommend Favorite

Association Analysis of Noncoding Variants in Neuroligins 3 and 4X Genes with Autism Spectrum Disorder in an Italian Cohort

By Landini Martina   Merelli Ivan   Raggi M. Elisabetta   Galluccio Nadia   Ciceri Francesca   Bonfanti Arianna   Camposeo Serena   Massagli Angelo   Villa Laura   Salvi Erika   Cusi Daniele   Molteni Massimo   Milanesi Luciano   Marabotti Anna   Mezzelani Alessandra  

International Journal of Molecular Sciences, Vol. 17, Iss. 10, 2016-10 ,pp. : 1765-1765

MDPI

Access to resources Recommend Favorite

Search for ReCQL4 mutations in 39 patients genotyped for suspected Rothmund–Thomson/Baller‐Gerold syndromes

By  

CLINICAL GENETICS, Vol. 87, Iss. 3, 2015-03 ,pp. : 244-251

John Wiley & Sons Inc

Access to resources Recommend Favorite