Results 91 to 100 of about 1,533,331 (192)

Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...
Jeremy J. Pomeroy, Jesse Richards, Brooke R. Sweeney, Seema Kumar, Katie E. Queen, Joshua Zaritsky, Carl H. Cramer, Elias I. Traboulsi, Brittni A. Scruggs, Erica E. Davis, Ekaterina Keifer, Emma McGibbon, Timothy Ogden, Bendert De Graaf, Tonia Hymers, Elizabeth Forsythe, Philip Beales   +16 more
wiley   +1 more source

Wilhelm Abel, Agrarpolitik, 2e édition.

, 1962
Keul Michael. Wilhelm Abel, Agrarpolitik, 2e édition.. In: Annales. Economies, sociétés, civilisations. 17ᵉ année, N. 1, 1962. pp.
Keul, Michael
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Distinct Neuropsychiatric Profiles Associated With 17p11.2 Deletions and RAI1 Variants in Smith–Magenis Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Smith–Magenis syndrome (SMS) results from either a recurrent 17p11.2 deletion or pathogenic variants in the retinoic acid induced 1 gene (RAI1). While neurodevelopmental impairment and behavioral dysregulation are well recognized, systematic genotype‐stratified analyses across psychiatric domains remain limited.
Albin Blanc, Christophe Nemos, Céline Bonnet, Mathilde Renaud, Sandra Chapuis, Pauline Boiroux, Marie‐Noëlle Babinet, Caroline Demily   +7 more
wiley   +1 more source

Comment on “Can Charge Transfer Across C─H···O Hydrogen Bonds Stabilize Oil Droplets in Water?”

Angewandte Chemie, EarlyView.
Nanoscale oil droplets in water are kinetically stable and charged, with a pH dependent electrophoretic mobility. Although the source of this charge is agreed to arise from water, 2 main hypotheses remain: OH− adsorption or electronic charge density displaced via hydrogen bonds. Molecular surface specific experiments are reviewed, that all point to the
P. Singh, C. E. Rani, S. Pullanchery, S. Roke   +3 more
wiley   +2 more sources

Psychiatric and Cognitive Features in Italian Women With the FMR1 Premutation: A Comprehensive Assessment Using SCID‐5 and Standardized Cognitive Measures

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Women with the FMR1 premutation (PM) are at increased risk for fragile X‐associated conditions (FXPAC), including cognitive and psychiatric features collectively termed fragile X‐associated neuropsychiatric disorders (FXAND). This study is the first to systematically investigate cognitive and psychiatric features in Italian female premutation ...
Federica Alice Maria Montanaro, Randi J. Hagerman, Giuseppina Spano, Flora Tassone, Giancarlo Logroscino, Andrea Bosco   +5 more
wiley   +1 more source

Gérard Mermet, Francoscopie : édition 2007

, 2006
Gérard Mermet, Francoscopie : édition 2007 . In: Agora débats/jeunesses, 41, 2006. Jeunes, genre et société.

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Milestone Attainment in Young Children With Arthrogryposis Multiplex Congenita: Developmental Profile and Associated Factors

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Evidence on developmental milestones in children with arthrogryposis multiplex congenita (AMC) under the age of five is scarce. This multisite cross‐sectional study described developmental status and examined factors associated with milestone attainment in 143 children aged 0–66 months from a pediatric AMC Registry.
Ahlam Zidan, Sophia C. Pasia, Emmanouil Rampakakis, Reggie Hamdy, Frank Rauch, Lauren C. Hyer, Joel Lerman, Haluk Altiok, Krister Freese, Cary Mielke, Sarah B. Nossov, Philip F. Giampietro, Thania Ordaz‐Robles, Noémi Dahan‐Oliel   +13 more
wiley   +1 more source

A Critical Examination of the Changes Proposed by the AJCCCCEP for the AJCC 9th Edition Colorectal Cancer Staging System. [PDF]

Am J Surg Pathol
Pan AY, Kakavand H, Sioson L, Sheen A, Ahadi MS, Chou A, Gill AJ.   +6 more
europepmc   +1 more source

Pierre Roussel, Sparte [2e édition]

, 1961
Salmon Pierre. Pierre Roussel, Sparte [2e édition]. In: L'antiquité classique, Tome 30, fasc. 2, 1961. pp.
Salmon, Pierre
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The Politics of Framing the Student Problem: Inquiries Into Australian Civics Education, 2006–2024

Australian Journal of Social Issues, EarlyView.
ABSTRACT Recurring debates about civics, the kinds of history that should, and should not, be taught in school, and ‘standards debates’ about the ‘basics’ typically follow on the heels of recurring moral panics about the ‘declining’ state of ‘our’ education system.
Patrick O'Keeffe, Judith Bessant, Madeline Drake   +2 more
wiley   +1 more source