Results 161 to 170 of about 3,527,679 (360)

Differential Rates of Psychopathology Symptoms in Periodic Limb Movement Disorder, Obstructive Sleep Apnea, Psychophysiological Insomnia, and Insomnia with Psychiatric Disorder [PDF]

, 1999
James E. Aikens, Peter A. Vanable, Lakshminarayana Tadimeti, Brendan Caruana-Montaldo, Wallace B. Mendelson   +4 more
openalex   +1 more source

An International ASXL3 Natural History Study: Deep Phenotypic Analyses Including Detailed Reports of a Milder Phenotype, Novel Associations, and Clinical Recommendations

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Natural History Studies can help inform clinician and caregiver expectations, form the basis of management guidelines, and provide a comparator for therapeutic intervention. In rare conditions, where collection of prospective longitudinal data is untimely and impractical, quasi‐natural history data—from multiple individuals of different ages ...
E. Woods, N. Holmes, A. S. Denommé‐Pichon, M. Vincent, N. Belova, C. Gooch, B. Isidor, C. W. Ockeloen, E. Pavlidou, H. Stewart, V. J. M. Verhoeven, A. Ververi, A. Dixit, A. Sarkar, R. Legg, E. Reid, M. Balasubramanian   +16 more
wiley   +1 more source

Clinical characteristics of circadian rhythm sleep disorders [PDF]

, 1998
Yuichi Kamei, Jujiro Urata, MAKOTO UCHIYAYA, Tatsuro Hayakawa, Shigeru Ozaki, Kayo Shibui, Masako Okawa   +6 more
openalex   +1 more source

Unraveling the Genomic Architecture of Supernumerary (Iso‐)Dicentric Chromosomes in Dup15q Syndrome: Insight From a Systematic Literature‐Based Study

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Chromosomal aberrations, particularly copy‐number variations (CNVs), are prevalent in neurodevelopmental disorders (NDD) and significantly contribute to their pathogenesis. Copy‐number gains (CN gains) in 15q11‐q13, primarily consisting of a pseudo (iso‐)dicentric chromosome 15 [(i)dic(15)] or an interstitial duplication, are among the most ...
Sebastian Burkart, Markus Ries, Verena Romero, Karin Burau, Christian P. Schaaf, Maja Hempel   +5 more
wiley   +1 more source

Acute and Chronic Cardiovascular Responses to Sleep Disordered Breathing [PDF]

, 1996
Barbara J. Morgan
openalex   +1 more source

Sleep loss and sleep disorders [PDF]

Medical Journal of Australia, 2013
David R. Hillman, Darren Mansfield, Shantha M W Rajaratnam, R. Doug McEvoy, R. Doug McEvoy, Nick A. Antic, Nick A. Antic   +6 more
openaire   +2 more sources

Speech and Language Disorders Associated With 7q31 Deletions Implicating FOXP2

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Some 7q31 deletions encompass FOXP2, a gene long associated with speech and language disorders. Intragenic pathogenic FOXP2 variants cause FOXP2‐related speech and language disorder, which has been well characterized in the literature. Conversely, the phenotype associated with 7q31 deletions is neglected.
Lottie D. Morison, Ruth Braden, David J. Amor, Angela T. Morgan   +3 more
wiley   +1 more source

Analgesic and respiratory effect of nalbuphine and pethidine for adenotonsillectomy in children with obstructive sleep disorder [PDF]

, 1997
Walid Habre, B. J. McLeod
openalex   +1 more source

Challenges in Genomic Variant Interpretation Within Pakistani Populations due to Genomic Healthcare Inequalities

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Accurate classification of genomic variants is crucial to ensure correct diagnosis, genetic counseling, and clinical management of monogenic inherited disorders. Variant interpretation can be hindered in populations that are significantly underrepresented in large reference genomic databases, leading to genomic healthcare inequalities. Despite
Zantasha Khalid, Matthew Adams, Anees Muhammad, Raeesa Tehreen, Arfa Azeem, Asif Ahmed, Nishanka Ubeyratna, Claire G. Salter, Joseph S. Leslie, Nikol Voutsina, Emma L. Baple, Andrew H. Crosby, Sabika Firasat, Muhammad Tahir Sarwar, Shamim Saleha, Asma Gul, Lettie E. Rawlins   +16 more
wiley   +1 more source

A Permutation Entropy Method for Sleep Disorder Screening. [PDF]

Brain Sci
Duarte CD, Meo MM, Iaconis FR, Wainselboim A, Gasaneo G, Delrieux C.   +5 more
europepmc   +1 more source