Results 101 to 110 of about 1,281 (185)

The pathophysiology of restricted repetitive behavior [PDF]

, 2009
Mark Lewis, Soo-Jeong Kim
core   +1 more source

Spectrum of mutations in the OCRL1 gene in the Lowe oculocerebrorenal syndrome. [PDF]

Am J Hum Genet, 1997
Lin T, Orrison BM, Leahey AM, Suchy SF, Bernard DJ, Lewis RA, Nussbaum RL.   +6 more
europepmc   +1 more source

Genotype and Phenotype Correlation in Patients With Dent's Disease Type 1-Clearing Muddy Waters. [PDF]

Kidney Int Rep, 2023
Mannemuddhu SS, Bökenkamp A.
europepmc   +1 more source

Ocular findings and genomics of X-linked recessive disorders: A review. [PDF]

Indian J Ophthalmol, 2022
Hassan A, Mir YR, Kuchay RAH.
europepmc   +1 more source

Macrocephaly and Characteristic MRI Findings as Early Clues to a Hereditary Overgrowth Syndrome. [PDF]

Cureus
Cezanne C, Freitas K, Ferreira SL, Queiroz AM, Monteiro JP.   +4 more
europepmc   +1 more source

Updated Gene Therapy for Renal Inborn Errors of Metabolism. [PDF]

Genes (Basel)
Hergenrother S, Husein M, Thompson C, Kalina E, Raina R.   +4 more
europepmc   +1 more source

Transmission of F12-related hereditary angioedema through a sperm donor. [PDF]

Front Immunol
Marquès L, Batlle-Masó L, Alcoceba E, Lara S, Aguiló-Cucurull A, Gil-Serrano J, Guilarte M, Colobran R.   +7 more
europepmc   +1 more source

Mechanism of HPV8 mediated silencing of Syntenin-2 gene expression and modulation of nuclear phospholipid metabolism [PDF]

, 2017
Marx, Benjamin Raphael
core  

The landscape of pediatric genetic white matter disorders at a tertiary referral hospital in Upper Egypt and the report of 31 novel variants. [PDF]

Ital J Pediatr
Noureldeen MM, Zaki MS, Rafat K, Abdel-Hamid MS, Salem AMS.   +4 more
europepmc   +1 more source