Results 221 to 230 of about 187,501 (315)

Bispectral Index Values and Spectral Edge Frequency at Different Stages of Physiologic Sleep

open access: bronze, 2002
Diederik Nieuwenhuijs   +4 more
openalex   +1 more source

Synchronization of the Processes of Autonomic Control of Blood Circulation in Humans Is Different in the Awake State and in Sleep Stages. [PDF]

open access: yesFront Neurosci, 2021
Karavaev AS   +11 more
europepmc   +1 more source

Presenting Clinical Information on Rare Chromosome 6 Disorders via a Parent‐Centered Website: Parental and Professional Views

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The scarcity of clinical information surrounding rare chromosome disorders poses challenges for parents and clinicians. To bridge this gap for chromosome 6 disorders, the Chromosome 6 Project collects detailed genotype and phenotype data, aiming to provide aberration‐specific phenotype information to parents via an interactive website.
Eleana Rraku   +6 more
wiley   +1 more source

Analysis and visualization of sleep stages based on deep neural networks. [PDF]

open access: yesNeurobiol Sleep Circadian Rhythms, 2021
Krauss P   +6 more
europepmc   +1 more source

Abnormal DNA Methylation Profile Suggests the Extension of the Clinical Spectrum of the SETD2‐Related Disorders to a Syndromic Multiple Tumor Phenotype

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT SETD2 has an essential role in epigenetic regulation. SETD2 pathogenic variants cause neurodevelopmental disorders (SETD2‐NDDs) that most commonly include various degrees of intellectual disability and behavioral disorders, macrocephaly, brain malformations, and generalized overgrowth.
Marie Lucain   +11 more
wiley   +1 more source

Compound Heterozygous Variants in ZSWIM7 Gene Linked to Infertility and Its Role in Gonadal Development

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT This study aims to elucidate the role of the ZSWIM7 gene in the etiology of infertility, focusing on its potential association with premature ovarian insufficiency and azoospermia. We investigated an 18‐year‐old female patient who presented with primary amenorrhea, hypoplasia of the uterus and ovaries, Tanner stage II breast and pubic hair ...
Denise M. Christofolini   +8 more
wiley   +1 more source

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