Results 231 to 240 of about 70,338 (285)

Clinical and Molecular Heterogeneity Underlying Monogenic Causes of Pediatric Diabetes Associated to Brain Developmental Disorders. [PDF]

Clin Genet
Di Pasquale G, Valsecchi C, Smylie GM, Salpietro V, Zuccotti GV, Delvecchio M, Mameli C.   +6 more
europepmc   +1 more source

Recessive AARS1 variants perturb human and mouse development. [PDF]

HGG Adv
Watts JL, Costantino N, Husami A, Dayarathna T, Willeke L, Peña LDM, Seiwert E, Gilbert DL, Stottmann RW.   +8 more
europepmc   +1 more source

A novel MBTPS2 missense variant identifying keratosis follicularis spinulosa decalvans in a case of neonatal erythroderma

JDDG: Journal der Deutschen Dermatologischen Gesellschaft, Volume 24, Issue 3, Page 392-396, March 2026.
Edwin Cuperus, Michel van Geel, Virginie JM Verhoeven, Suzanne M Koudijs, Gerharda H Boerman, Angela M Tjiam, N Margreth van der Lugt, Suzanne GMA Pasmans   +7 more
wiley   +1 more source

Sensorial function in children with congenital Zika syndrome: what is the relationship with motor function? [PDF]

Rev Paul Pediatr
Brito ASS, Meira CAC, Moreira KMA, Santino TA, Tavares JS, Gama GL, Melo A.   +6 more
europepmc   +1 more source

Global developmental delay and focal seizures in individuals with de novo truncating MACF1 variants. [PDF]

Hum Genomics
Xi J, Deng F, Liang M, Ding Y, Li X, Gu Z, Lin Z, Liu Z, Li X.   +8 more
europepmc   +1 more source

Case Report: Compound heterozygous <i>CEP152</i> c.3346-5T>C variant and chr15 deletion causing recurrent MCPH-SCKS in a Chinese pregnant woman across two consecutive pregnancies. [PDF]

Front Genet
Zhang T, Yuan H, Shi X, He Y, Pan H, Zhong Y, Zhang J, Yang Z, Ke Y, Chen Y, Zhang F.   +10 more
europepmc   +1 more source

Neurogenetic Disorders with Hearing Loss: Mechanisms, Classifications, and Emerging Insights. [PDF]

Curr Neurol Neurosci Rep
Owrang D, Vona B.
europepmc   +1 more source

Retrospective Review of Perioperative Neonatal Echocardiography for Non‐Cardiac Surgery at a Quaternary Level Academic Hospital in Johannesburg, South Africa

Pediatric Anesthesia, Volume 36, Issue 3, Page 326-328, March 2026.
Bronwyn Faith Krause, Firoza Motara, Zainub Jooma   +2 more
wiley   +1 more source

Infantile Cataracts Associated with a Homozygous Missense <i>MSMO1</i> Variant-Case Report and Literature Review. [PDF]

Reports (MDPI)
Hassas N, Drackley A, Ivanisevic J, Ralay Ranaivo H, Kurup SP.   +4 more
europepmc   +1 more source