DOI: 10.1055/s-00029027

Journal of Pediatric Genetics

eFirst

Publication Date: 16 February 2018

Original Article

Publication Date: 28 January 2018

Review Article

Publication Date: 16 January 2018

Publication Date: 29 December 2017

Case Report

Bishop, Juliet Chhay; 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

Case Report

Shoukfeh, Omar; 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

Publication Date: 21 December 2017

Original Article

Sawal, Humaira Aziz; 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

Publication Date: 18 December 2017

Case Report

Arican, Pinar; 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

Publication Date: 08 December 2017

Publication Date: 10 May 2017