Ratiu, Ileana;

Esfandiarei, Mitra;

Chen, Angela;

Selamet Tierney, Elif Seda:


A Review of Psychosocial Factors of Marfan Syndrome: Adolescents, Adults, Families, and Providers

Aza-Carmona, Miriam;

Medino-Martín, David;

Gomez, Abel;

Heath, Karen E.;

Fano, Virginia;

Obregon, María Gabriela:


SHOX Deficiency in Argentinean Cohort: Long-Term Auxological Follow-Up and a Family’s New Mutation

Oztürk Hismi, Burcu:


Investigation of L

–

Carnitine Concentrations in Treated Patients with Maple Syrup Urine Disease

Afshar, Ahmadreza;

Abdi rad, Isa;

Tabrizi, Ali;

Ghazani, Reza Babaei;

Bateni, Amin:


A High Prevalence Rate of Tibia Hemimelia in a Subregion of West Azarbaijan, Iran

Phaltas, Rozaleen;

Minzes, Gwen;

Martinez, Jose;

Bhat, Ramachandra:


A Rare Co-occurrence of Intestinal Malrotation and Hirschsprung’s Disease in a Neonate with 13q21.31q33.1 Interstitial Deletion Including the

EDNRB

Gene

Abarca-Barriga, Hugo Hernán:


Homozygous Deletion of the

CFTR

Gene Caused by Interstitial Maternal Isodisomy in a Peruvian Child with Cystic Fibrosis

Correa, Alec Reginald Errol;

Jana, Manisha;

Kabra, Madhulika:


Report of a Novel Homozygous Nonsense

DDR2

Mutation in an Indian Adult Male with Spondylo-meta-epiphyseal Dysplasia, Short Limb-Abnormal Calcification Type

Atwal, Paldeep S.:


Novel

HIVEP2

Variant p.Q1248* is Associated with Developmental Delay: A Case Report

Damar, Çağrı;

Gürbüz, Gürkan:


Esophageal Atresia and Thenar Hypoplasia Associated with Asymmetric Crying Face

Thakur, Seema;

Kohlhase, Juergen;

Bhari, Neetu;

Kabra, Madhulika;

Gupta, Neerja:


Report of Two Novel Mutations in Indian Patients with Rothmund–Thomson Syndrome

Sabbagh, Sandra;

Bizzari, Sami;

El-Hayek, Stephany;

Chouery, Eliane;

Gambarini, Alicia;

Gencik, Martin;

Mégarbané, André:


The Lebanese Allele in the

PET100

Gene: Report on Two New Families with Cytochrome c Oxidase Deficiency