Fraser, Pamela C.;

Gutzeit, Michael F.;

Harris, Jeremy M.;

Hambuch, Tina M.;

Helbling, Daniel C.;

Jacob, Howard J.;

Kersten, Juliet N.;

Leuthner, Steven R.;

May, Thomas;

North, Paula E.;

Prisco, Sasha Z.;

Schuler, Bryce A.;

Shimoyama, Mary;

Strong, Kimberly A.;

Van Why, Scott K.;

Veith, Regan;

Verbsky, James;

Weborg, Arthur M.;

Wilk, Brandon M.;

Willoughby, Rodney E.;

Worthey, Elizabeth A.;

Dimmock, David P.:


Successful Application of Whole Genome Sequencing in a Medical Genetics Clinic

Abel, Samantha N.;

McClure, Matthew B.;

Foster, Joseph;

Walke, Maria I.;

Jayakar, Parul;

Bademci, Guney;

Tekin, Mustafa:


Novel Causative Variants in

DYRK1A, KARS

, and

KAT6A

Associated with Intellectual Disability and Additional Phenotypic Features

Soyah, Najla;

Labalme, Audrey;

Guilbert, Helene;

Sanlaville, Damien;

Saad, Ali;

Mougou-Zerelli, Soumaya:


Genomic Microarray in Intellectual Disability: The Usefulness of Existing Systems in the Interpretation of Copy Number Variation

Kumar, Alok:


Anterior Abdominal Wall Defects, Diaphragmatic Hernia, and Other Major Congenital Malformations of the Musculoskeletal System in Barbados, 1993–2012

Nittis, Pasquelena De;

Alfaiz, Ali Abdullah;

Pellico, Maria Teresa;

Augello, Bartolomeo;

Malerba, Natascia;

Zelante, Leopoldo;

Reymond, Alexandre;

Merla, Giuseppe:


A New Split Hand/Foot Malformation with Long Bone Deficiency Familial Case

Vendramini-Pittoli, Siulan;

Kokitsu-Nakata, Nancy Mizue;

Zechi-Ceide, Roseli Maria;

Alvarez, Camila Wenceslau;

Ribeiro-Bicudo, Lucilene Arilho:


Multisystem Involvement in a Patient with a

PTCH1

Mutation: Clinical and Imaging Findings

Brown, Barry Scott:


The Clinical Manifestations and Genetic Implications of Baraitser–Winter Syndrome Type 2

Gorla, Sudheer R.;

Barbouth, Deborah S.:


Klinefelter Syndrome in Association with Tetralogy of Fallot and Congenital Diaphragmatic Hernia

El-Beheiry, Ahmed A.:


Overlap between Fibular Aplasia, Tibial Campomelia, and Oligosyndactyly and Fuhrmann’s Syndromes in an Egyptian Female Infant

Chilkar, Sujeet:


Progressive Familial Intrahepatic Cholestasis Type 2 in an Indian Child

Bodurtha, Joann N.:


Essential Mednotes—Comprehensive Medical Reference & Review for USMLE II and MCCQE I