Cox, Devin M.;

Smith, Teri;

Butler, Merlin G.:


The 7q11.23 Microduplication Syndrome: A Clinical Report with Review of Literature

Naylor, Paige E.;

Hudson, Kyr;

Aoki, Christa D.;

Cordova, Matthew J.;

Packman, Wendy:


The Psychosocial Impact of Fabry Disease on Pediatric Patients

Bursch, Megan;

Lajiness-O’Neill, Renee:


Potential Role of Cortisol in Social and Memory Impairments in Individuals with 22q11.2 Deletion Syndrome

Borrelli, Angela Carla;

Cerullo, Julia;

Pirozzi, Maria Rosaria;

Raimondi, Francesco:


Thoracic Hypoplasia at Birth as Presenting Feature of Shwachman-Diamond Syndrome in Twins

Chen, Margaret:


Fanconi–Bickel Syndrome: Two Pakistani Patients Presenting with Hypophosphatemic Rickets

McMillan, Martin;

Shepherd, Sheila;

Helfrich, Miep;

Hof, Rob vant;

Adams, Christopher;

Read, Heather;

Wall, Daniel M.;

Ahmed, S. Faisal:


An Unbalanced Rearrangement of Chromosomes 4:20 is Associated with Childhood Osteoporosis and Reduced Caspase-3 Levels

Balasubramaniam, Shanti;

Dryland, Philippa A.;

Love, Jennifer M.;

Kava, Maina P.;

Love, Donald R.;

Prosser, Debra O.:


Two Novel

GLDC

Mutations in a Neonate with Nonketotic Hyperglycinemia