Mary K Kukolich

Mary K Kukolich

UNVERIFIED PROFILE

Are you Mary K Kukolich?   Register this Author

Register author
Mary K Kukolich

Mary K Kukolich

Publications by authors named "Mary K Kukolich"

Are you Mary K Kukolich?   Register this Author

11Publications

683Reads

39Profile Views

ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder.

Am J Hum Genet 2019 Feb 10;104(2):319-330. Epub 2019 Jan 10.

Laboratoire d'ImmunoRhumatologie Moléculaire, plateforme GENOMAX, INSERM UMR_S 1109, Faculté de Médecine, Fédération Hospitalo-Universitaire OMICARE, Fédération de Médecine Translationnelle de Strasbourg (FMTS), LabEx TRANSPLANTEX, Université de Strasbourg, 4 rue Kirschleger, 67085 Strasbourg, France; Service d'Immunologie Biologique, Plateau Technique de Biologie, Pôle de Biologie, Nouvel Hôpital Civil, 1 place de l'Hôpital, 67091 Strasbourg, France. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajhg.2018.12.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6369415PMC
February 2019

Sensenbrenner syndrome (Cranioectodermal dysplasia): clinical and molecular analyses of 39 patients including two new patients.

Am J Med Genet A 2013 Nov 3;161A(11):2762-76. Epub 2013 Oct 3.

Medical Genetics, MassGeneral Hospital for Children, Boston, Massachusetts.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.36265DOI Listing
November 2013

Duplication of chromosome band 12q24.11q24.23 results in apparent Noonan syndrome.

Am J Med Genet A 2008 Apr;146A(8):1042-8

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.32215DOI Listing
April 2008