Dahl, John P.:


Syndromic Hearing Loss: A Brief Review of Common Presentations and Genetics

Salian, Smrithi;

Shah, Hitesh;

Nair, Mohandas;

Sharan, Krishna;

Jin, Dong-Kyu;

Cho, Sung Yoon;

Mathew, Mary;

Shukla, Anju;

Girisha, Katta M.:


Pycnodysostosis: Novel Variants in

CTSK

and Occurrence of Giant Cell Tumor

Ohlenbusch, Andreas;

Jung, Klaus;

Steinfeld, Robert;

Gärtner, Jutta:


Cathepsin D Polymorphism C224T in Childhood-Onset Neurodegenerative Disorders: No Impact for Childhood Dementia

Kumar, Ravindra;

Tewari, Satyendra;

Agarwal, Sarita:


No Association of Genetic Markers with Carotid Intimal Medial Thickness in β-Thalassemia Major Patients

Basel, Donald G.;

Bick, David P.;

Chirempes, Brett;

Lorier, Rachel B.;

Zemlicka, Nykula;

Grignon, John W.;

Weik, LuAnn;

Kappes, Ulrike:


A Rare Combination of Functional Disomy Xp, Deletion Xq13.2-q28 Spanning the

XIST

Gene, and Duplication 3q25.33-q29 in a Female with der(X)t(X;3)(q13.2;q25.33)

Falsaperla, Raffaele;

Rizzo, Renata;

Ruggieri, Martino;

Verrotti, Alberto;

Pavone, Piero:


A New Patient with Potocki–Lupski Syndrome: A Literature Review

Geddes, Gabrielle C.;

Basel, Donald G.;

Schippman, Dana;

Grignon, John W.;

vanTuinen, Peter;

Kappes, Ulrike P.:


Inheritance of a Balanced t(12;20)(q24.33;p12.2) and Unbalanced der(13)t(7;13)(p21.3;q33.2) from a Maternally Derived Double Balanced Translocation Carrier

Bortholin, Thiago;

Burlin, Stênio;

Naylor, Fernando George Monteiro;

Pinto, Wladimir Bocca Vieira de Rezende;

Oliveira, Acary Souza Bulle:



NFU1

-Related Disorders as Key Differential Diagnosis of Cavitating Leukoencephalopathy

Wiwanitkit, Viroj:


Sensorineural Hearing Loss and Congenital Cytomegalovirus Infection