Bagga, Arvind;

Sinha, Aditi;

Hari, Pankaj;

Sharma, Arundhati:


Genetics of Refractory Rickets: Identification of Novel

PHEX

Mutations in Indian Patients and a Literature Update

Harripaul, Ricardo;

Mikhailov, Anna;

Vleuten, Kayla;

Naeem, Farooq;

Nasr, Tanveer;

Hassan, Muhammad Jawad;

Vincent, John B.;

Ayub, Muhammad;

Rafiq, Muhammad Arshad:


Three Mutations in the Bilateral Frontoparietal Polymicrogyria Gene

GPR56

in Pakistani Intellectual Disability Families

Laochareonsuk, Wison;

Maneechay, Wanwisa;

Kayasut, Kanita;

Chiengkriwate, Piyawan:


Variants Associated with Infantile Cholestatic Syndromes Detected in Extrahepatic Biliary Atresia by Whole Exome Studies: A 20-Case Series from Thailand

Cavusoglu, Dilek;

Gencpinar, Pinar;

Ozyilmaz, Berk;

Ozdemir, Taha Resid;

Dundar, Nihal Olgac:


A De Novo Xp11.23 Duplication in a Girl with a Severe Phenotype: Expanding the Clinical Spectrum

Britton, Jacquelyn Francis;

Murphy, Anne M.;

Sule, Sangeeta;

Mitchell, Sally;

Takemoto, Clifford;

Collaco, Joseph M.;

Karnsakul, Wikrom;

Cuffari, Carmelo;

Dietz, Edith;

Bodurtha, Joann:


Juvenile Idiopathic Arthritis Associated with Combined JP–HHT Syndrome: A Novel Phenotype Associated with a Novel Variant in

SMAD4

Atwal, Paldeep S.:


A 2-Year-Old Child with Bilateral Ectopis Lentis and a Novel FBN1 Gene Variant Cys129Ser

Richards, Alan B.;

Prouty, Leonard A.;

Hinrichsen, John;

Spencer, William Rand;

Langford, Marlyn P.:


Case Report of Proliferative Peripheral Retinopathy in Two Familial Lissencephaly Infants with Miller–Dieker Syndrome

Oz, Esra:


Oral-Facial-Digital Syndrome Type 1: Oral Findings in a 6-Year-Old Girl