Spengler, Sabrina;

Begemann, Matthias;

Wollmann, Hartmut A.;

Binder, Gerhard;

Eggermann, Thomas:


IGF1R mutation analysis in short children with Silver-Russell syndrome features

Overcash, Francine;

Murphy, Susan K.;

Murtha, Amy P.;

Schildkraut, Joellen M.;

Forman, Michele R;

Demark-Wahnefried, Wendy;

Kurtzberg, Joanne;

Skaar, David;

Jirtle, Randy L.;

Hoyo, Cathrine:


Associations between birth and one year anthropometric measurements and

IGF2

and

IGF2R

genetic variants in African American and Caucasian American infants

Martínez-Bernal, Astrid B.;

Belmont-Martínez, Leticia;

Vela-Amieva, Marcela;

Angel, Ariadna González-del:



CTNS

gene analysis emphasizes diagnostic value of eye examination in patients with cystinosis

Claverie-Martin, Felix;

Garcia-Nieto, Victor;

Ariceta, Gema;

Vara, Julia;

Gonzalez-Acosta, Hilaria;

Garcia-Ramirez, Marta;

Fons, Jaime;

Cordoba-Lanus, Elizabeth;

Gonzalez-Paredes, Javier;

Valenciano, Blanca;

Ramos, Leticia;

Muley, Rafael;

Caggiani, Marina;

Alvarez-Estrada, Pilar;

Madrid, Alvaro;

the RenalTube Group:


Dent’s disease: Identification of seven new pathogenic mutations in the

CLCN5

gene

Al-Kindy, Adila:


A rare case of de novo mosaicism: Deletion 18p and isochromosome 18q syndrome

Mougou-Zerelli, Soumaya;

Hannachi, Hanene;

Gmidène, Abir;

Labalme, Audrey;

Soyah, Najla;

Sanlaville, Damien;

Saad, Ali;

Elghezal, Hatem:


Molecular cytogenetic and phenotypic characterization of ring chromosome 13 in three unrelated patients

Usrey, Kelly M.;

Roberts, Jennifer L.;

Manzardo, Ann M.;

Schroeder, Stephen R.:


20q13.2-q13.33 deletion syndrome: A case report

Gupta, Neerja;

Chowdhury, Madhumita R.;

Sapra, Savita;

Shukla, Rashmi;

Lall, Meena;

Kabra, Madhulika:


Inherited 5p deletion syndrome due to paternal balanced translocation: Phenotypic heterogeneity due to duplication of 8q and 12p

Álvarez-Satta, María;

Valverde, Diana:


Bardet-Biedl syndrome: A rare genetic disease