Zhang, Haitao;

Mentch, Frank D.;

Bradfield, Jonathan P.;

Glessner, Joseph T.;

Qiu, Haijun;

Guo, Yiran;

Hou, Cuiping;

Frackelton, Edward C.;

Thomas, Kelly;

Bender, Amber;

Albano, Anthony;

Otieno, George;

Garris, Maria;

Seidler, Kallyn;

Moy, Alexander;

Kim, Cecilia E.;

Keating, Brendan;

Chiavacci, Rosetta M.;

Grundmeier, Robert;

Sleiman, Patrick A.;

Grant, Struan F.A.;

Hakonarson, Hakon:


Examination of genetic variants influencing lipid traits in pediatric populations

Magariello, Angela;

Ungaro, Carmine;

Muglia, Maria;

Conforti, Francesca L.;

Gabriele, Anna L.;

Citrigno, Luigi;

Sproviero, William;

Mazzei, Rosalucia:



SMN1

gene copy number analyses for SMA healthy carriers in Italian population

Thompson, John M.D.;

Waldie, Karen E.;

Cornforth, Christine M.;

Turic, Darko;

Sonuga-Barke, Edmund J.S.;

Lam, Wen-Jiun;

Ferguson, Lynnette R.;

Mitchell, Edwin A.:


Initial evidence that polymorphisms in neurotransmitter-regulating genes contribute to being born small for gestational age

Wang, Boris T.;

Owen, Renius;

Ross, Leslie P.;

Mahon, Loretta W.;

Boyar, Fatih Z.;

Anguiano, Arturo;

Strom, Charles M.:


Inherited and

de novo

22q11.2 distal duplications in two patients with autistic features, speech delay and no dysmorphology

Leon, Eyby;

Maher, Tom A.;

Milunsky, Jeff M.:



RASA1

analysis guides management in a family with capillary malformation-arteriovenous malformation

Vitarella, Graciela;

Souto, Jorge;

Reyes, Ana Laura;

Farias, Joaquina;

Fernández, Mariana;

Fabregat, Matias;

Javiel, Gerardo:


The phenotype masks the genotype: A possible new expression of diabetes

Samanich, Joy;

Pan, Quilu;

Mehta, Lakshmi;

Marion, Robert:


17q12 Deletion in a patient with Williams syndrome: Case report and review of the literature

Spengler, Sabrina;

Gamerdinger, Ulrike;

Denecke, Bernd;

Grimm, Silke;

Grimm, Manfred;

Schubert, Regine;

Schwanitz, Gesa:


Duplication 3q13.11q23: Longitudinal study in a patient over a period of more than 7 years and refinements of the breakpoints