Results 241 to 250 of about 553,175 (396)

Truncating Variants in RREB1 Cause a Novel RASopathy Syndrome of Congenital Heart Disease, Genitourinary Malformations, and Developmental Delay

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The interstitial 6p microdeletion syndrome is characterized by dysmorphic facies and structural heart, kidney, brain, and musculoskeletal differences. RREB1 haploinsufficiency and consequent abnormal RAS‐MAPK pathway signaling have been proposed as a driver of the disease phenotype; however, apart from a single case report, the phenotype of ...
Alanna Strong   +16 more
wiley   +1 more source

Present Status of Intraoperative Blood Transfusion in Otolaryngology and Head & Neck Surgery.

open access: bronze, 1995
Naomi Kato   +6 more
openalex   +2 more sources

Robotics in otolaryngology and head and neck surgery: Recommendations for training and credentialing: A report of the 2015 AHNS education committee, AAO‐HNS robotic task force and AAO‐HNS sleep disorders committee

open access: yesHead and Neck, 2016
N. Gross   +13 more
semanticscholar   +1 more source

Enhancing AI Chatbot Responses in Health Care: The SMART Prompt Structure in Head and Neck Surgery. [PDF]

open access: yesOTO Open
Vaira LA   +15 more
europepmc   +1 more source

Patient With Prolidase Deficiency due to an Homozygous PEPD Variant, Induced by Paternal Uniparental Isodisomy of Chromosome 19

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Uniparental disomy (UPD) is a rare phenomenon in which both copies of a chromosome are inherited from a single parent. This can lead to genomic imprinting disorders and recessive disorders due to the presence of recessive pathogenic variants in both alleles. Additionally, depending on the mechanisms by which UPD occurs, mosaic aneuploidies may
Marta Carreño‐Hidalgo   +4 more
wiley   +1 more source

The Hypotension Prediction Index in Free Flap Transplant in Head and Neck Surgery: Protocol of a Prospective Randomized Controlled Trial. [PDF]

open access: yesLife (Basel)
Szrama J   +8 more
europepmc   +1 more source

Survivorship of Individuals With Double Heterozygosity for Achondroplasia and Type 2 Collagenopathy

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Historically, double heterozygosity, or a diagnosis of two separate, dominant genetic conditions, was often thought to be lethal in individuals with autosomal dominant skeletal dysplasias. In previously published studies of individuals with dual dysplasia diagnoses of achondroplasia and type 2 collagenopathy, infants died of respiratory ...
Valerie R. Schwartz   +3 more
wiley   +1 more source

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