Journal of Pediatric Genetics

Ausgabe 02 · Juni 2017

eFirst
Ausgabe
Original Article
061
Bick, David; 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

Volltext

HTML

PDF (523 kb)

Zusatzmaterial

Supplement 1

Supplement 2

Supplement 3

Supplement 4

Supplement 5
077
Murray, Clark R.; 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

Volltext

HTML

PDF (1454 kb)
084
Ben Khelifa, Hela; 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

Volltext

HTML

PDF (4768 kb)
092
Singh, Keerti; Kumar, Alok: Anterior Abdominal Wall Defects, Diaphragmatic Hernia, and Other Major Congenital Malformations of the Musculoskeletal System in Barbados, 1993–2012

Volltext

HTML

PDF (412 kb)
Case Report
098
Fusco, Carmela; 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

Volltext

HTML

PDF (3664 kb)

Zusatzmaterial

Supplementary Tables
103
Richieri-Costa, Antonio; 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

Volltext

HTML

PDF (1089 kb)
107
Allawh, Tanya C.; Brown, Barry Scott: The Clinical Manifestations and Genetic Implications of Baraitser–Winter Syndrome Type 2

Volltext

HTML

PDF (2176 kb)
111
Kylat, Ranjit I.: What Is the Teratogenic Risk of Mycophenolate?

Volltext

HTML

PDF (2254 kb)
115
Swaminathan, Sethuraman; Gorla, Sudheer R.; Barbouth, Deborah S.: Klinefelter Syndrome in Association with Tetralogy of Fallot and Congenital Diaphragmatic Hernia

Volltext

HTML

PDF (51 kb)
118
Abdalla, Ebtesam M.; El-Beheiry, Ahmed A.: Overlap between Fibular Aplasia, Tibial Campomelia, and Oligosyndactyly and Fuhrmann's Syndromes in an Egyptian Female Infant

Volltext

HTML

PDF (1070 kb)
122
Kylat, Ranjit I.: Achondroplasia and Biliary Atresia: A Rare Association and Review of Literature

Volltext

HTML

PDF (501 kb)
126
Shah, Ira; Chilkar, Sujeet: Progressive Familial Intrahepatic Cholestasis Type 2 in an Indian Child

Volltext

HTML

PDF (54 kb)
Book Review
128
Muriello, Michael; Bodurtha, Joann N.: Essential Mednotes—Comprehensive Medical Reference & Review for USMLE II and MCCQE I

Volltext

HTML

PDF (48 kb)
Meistgelesen
Archiv

Zeitschrift

Autor*innen

Abonnement