Results 191 to 200 of about 815,500 (288)

Descriptive Epidemiology From the Myhre Syndrome Foundation Registry: The Value of Self‐Reported Data

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing loss. The natural history of Myhre syndrome is still not fully understood due to a small patient population ...
Mary K. Young, Armelle Pindon, Maggie R. Brand, Kate Wears, Katherine H. Young, Alyssa Mendel, Michael J. Lyons   +6 more
wiley   +1 more source

Lars Gisnås: Fascister i ei fjellbygd. Nasjonal Samling i Oppdal 1933–1945

Heimen, 2019
Gunnar D. Hatlehol
doaj   +1 more source

Photo Quiz: A camper with fever, headache, and fatigue. [PDF]

J Clin Microbiol
von Bredow B, Sims MD, Boyanton BL.
europepmc   +1 more source

Psychiatric Comorbidities and Treatment Modalities in Children With Osteogenesis Imperfecta: A Systematic Review of Mental Health

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT To evaluate the prevalence of psychiatric signs and symptoms and describe psychotherapeutic and psychopharmacological interventions among children with osteogenesis imperfecta (OI). PRISMA guidelines were followed, and the study was registered in PROSPERO (CRD42024588284). Studies (n = 1419) were identified across five databases.
Julia M. Morales, Camille F. Villar, Beatriz Varman, Gianna M. Colombo, Danqi Li, Sarah J. Sadek, Marie‐Eve Robinson, Chaya N. Murali, Kara Ayers, Jocelyn Gomez, Brendan Lee, V. Reid Sutton, Eric A. Storch, Andrew D. Wiese   +13 more
wiley   +1 more source

Hans Sevatdal: Per Kåre Sky og Erling Berge: Eigedomshistorie. Hovudliner i norsk eigedomshistorie frå 1600-talet fram mot nåtida

Heimen, 2019
Aud Mikkelsen Tretvik
doaj   +1 more source

Biogeographic history of the Late Pleistocene and Holocene European small hamsters (subfamily Cricetinae). [PDF]

Sci Rep
Bujalska B, Golubiński M, Popović D, Berto C, Conard NJ, Lemanik A, Luzi E, Marković Z, Nadachowski A, Popov V, Horáček I, Baca M.   +11 more
europepmc   +1 more source

A Population‐Based Assessment of Cancer Risk in Children With VACTERL

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cancer risk in children with VACTERL, a nonrandom co‐occurrence of ≥ 3 defects (vertebral, anal, cardiac, tracheoesophogeal fistula, renal, and limb), remains unclear. We evaluated this association in a population‐based study. We analyzed data from the Genetic Overlap Between Anomalies and Cancer in Kids (GOBACK) Study, a US registry linkage ...
Ji Yun Tark, Alexander Renwick, Giorgio Tettamanti, Rachel D. Harris, Tania A. Desrosiers, Andrew F. Olshan, Amanda E. Janitz, Michael E. Scheurer, Charles J. Shumate, Angela E. Scheuerle, Sharon E. Plon, Chad D. Huff, Ann Nordgren, Barbara Luke, Philip J. Lupo, Jeremy M. Schraw   +15 more
wiley   +1 more source

The dispersal of domestic cats from North Africa to Europe around 2000 years ago. [PDF]

Science
De Martino M, De Cupere B, Rovelli V, Serventi P, Mouraud B, Baldoni M, Di Corcia T, Geiger S, Alhaique F, Alves PC, Buitenhuis H, Ceccaroni E, Cerilli E, De Grossi Mazzorin J, Detry C, Dowd M, Fiore I, Gourichon L, Grau-Sologestoa I, Küchelmann HC, Kunst GK, McCarthy M, Miccichè R, Minniti C, Moreno M, Mrđić N, Onar V, Oueslati T, Parrag M, Pino Uria B, Romagnoli G, Rugge M, Salari L, Saliari K, Santos AB, Schmölcke U, Sforzi A, Soranna G, Spassov N, Tagliacozzo A, Tinè V, Trixl S, Vuković S, Wierer U, Wilkens B, Doherty S, Sykes N, Frantz L, Mattucci F, Caniglia R, Larson G, Peters J, Van Neer W, Ottoni C.   +53 more
europepmc   +1 more source

Cytosolic Phosphoenoylpyruvate Carboxykinase Deficiency: Clinical, Biochemical, and Genetic Features of Five Non‐Finnish Patients

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cytosolic phosphoenoylpyruvate carboxykinase (PEPCK‐C) is an essential, rate‐limiting enzyme in the gluconeogenesis pathway. PEPCK‐C deficiency presents with hypoglycaemia, hyperlactataemia and hepatopathy, and was first reported in association with bi‐allelic PCK1 variants in 2014.
Isaac Bernhardt, Polona Le Quesne Stabej, Claire Hart, Mark De Hora, Sarah Hulley, Mark Anderson, Harry G. Leitch, Hugh Lemonde, Bryony Ryder, James Davison   +9 more
wiley   +1 more source

Spatiotemporal Diversification of Forest Understorey Species Reveals the Existence of Multiple Pleistocene Forest Refugia in Central Europe. [PDF]

Mol Ecol
Voisin C, Kirschner P, Záveská E, Frajman B, Hülber K, Wessely J, Willner W, Schönswetter P, Carnicero P.   +8 more
europepmc   +1 more source