DOI: 10.1055/s-00029027

Journal of Pediatric Genetics

eFirst

Publication Date: 16 March 2017

Original Article

Publication Date: 07 March 2017

Case Report

Fontana, P.; Melis, D.; D'Amico, A.; Cappuccio, G.; Auletta, G.; Vassallo, P.; Genesio, R.; Nitsch, L.; Buffolano, W.: Sensorineural Hearing Loss in a Patient Affected by Congenital Cytomegalovirus Infection: Is It Useful to Identify Comorbid Pathologies?

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Mbuyi-Musanzayi, Sébastien; Lumaka, Aimé; Kasole, Toni Lubala; Ilunga, Erick Kasamba; Asani, Bienvenu Yogolelo; Tshilobo, Prosper Lukusa; Muenze, Prosper Kalenga; Reychler, Hervé; Katombe, François Tshilombo; Devriendt, Koenraad: Wolf-Hirschhorn Syndrome: Clinical and Genetic Data from a First Case Diagnosed in Central Africa

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Nampoothiri, Sheela; Hebbar, Malavika; Roy, Arun Grace; Kochumon, Sheena P; Bielas, Stephanie; Shukla, Anju; Girisha, Katta Mohan: Hyperphosphatasia with Mental Retardation Syndrome Due to a Novel Mutation in PGAP3

Case Report

Original Article

Original Article

Mendez-Rosado, Luis Alberto; Lantigua, Araceli; Galarza, Juan; Hamid Al-Rikabi, Ahmed B.; Ziegler, Monika; Liehr, Thomas: Unusual de novo Partial Trisomy 17p12p11.2 due to Unbalanced Insertion into 5p13.1 in a Severely Affected Boy

Original Article

Mullegama, Sureni V.; Alaimo, Joseph T.; Fountain, Michael D.; Burns, Brooke; Balog, Amanda Hebert; Chen, Li; Elsea, Sarah H.: RAI1 Overexpression Promotes Altered Circadian Gene Expression and Dyssomnia in Potocki–Lupski Syndrome

Publication Date: 14 February 2017

Original Article

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

Publication Date: 13 February 2017

Publication Date: 18 January 2017

Publication Date: 03 January 2017

Case Report

Publication Date: 02 January 2017

Publication Date: 28 November 2016

Original Article

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

Publication Date: 10 November 2016

Publication Date: 14 September 2016

Case Report

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

Publication Date: 08 September 2016

Original Article

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

Publication Date: 31 August 2016

Case Report

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