Results 111 to 120 of about 615,905 (233)

Expanding the Phenotypic Spectrum of TXNDC15‐Related Ciliopathies to Include Joubert Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic loss‐of‐function variants in TXNDC15 are a known cause of the perinatally lethal ciliopathy Meckel syndrome (MKS). TXNDC15 encodes an endoplasmic reticulum (ER)‐resident thioredoxin‐domain protein required for ciliary transition zone integrity.
Zachary T. Sentell, Robert Geraghty, Juliana E. Arcila‐Galvis, Praveen Dhondurao‐Sudhindar, Sergio Foullerat Cañada, Fulvio D'Abrusco, Bosanka Jocic‐Jakubi, Miguel Barroso‐Gil, Valentina Serpieri, Thomas M. Kitzler, Kate E. Chandler, Eleanor G. Seaby, Gabrielle Wheway, Jennifer C. Dempsey, Dan Doherty, Enza M. Valente, John A. Sayer   +16 more
wiley   +1 more source

L'anthropologie économique : actes du 1er colloque du département d'anthropologie, Montréal, Canada, 2 mars 1995

, 1995
La détermination en anthropologie : éléments pour une réflexion / Pierre Beaucage, PhD., London School of Economics ; Économie et rituel / Robert Crépeau, PhD., Université de Montréal ; Les travaux et les jours dans l'Hymalaya central / John Leavitt ...

core  

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

Pardon ? Vous avez bien dit : Patrimoine immatériel montréalais ?

Téoros, 2007
Le patrimoine de l’humanité s’est ouvert depuis quelques années à une nouvelle catégorie qui vise à circonscrire les chefs-d’œuvre du patrimoine oral et immatériel. Danses, langues, rites, musiques et savoir-faire côtoient désormais châteaux, cathédrales,
Martin Drouin, Marie-Blanche Fourcade
doaj  

A Novel Splice Variant in ERGIC1 Causes Arthrogryposis Multiplex Congenita—Characterization Using Urine‐Derived Cells

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is defined as the presence of joint contractures affecting at least two body regions at birth. Three different ERGIC1 variants have been reported in individuals with AMC. Here, we report on a 16‐year‐old male with a homozygous ERGIC1 c.250+1G>A variant that was classified as a variant of uncertain ...
Lauren Kerr, Paul McKay, Juliana Marulanda, Zenghui Wu, Reggie Hamdy, Sena Tavukcu, Noémi Dahan‐Oliel, Frank Rauch   +7 more
wiley   +1 more source

Expanding the DNA Nanotechnology Toolbox: Hierarchical Assembly and Self‐Sorting of DNA Tiles With Precisely Controlled Hydrophobic Behavior

Angewandte Chemie, EarlyView.
DNA tile amphiphiles encode dual chemical information, directing nanostructure formation through base‐pairing and hydrophobic effects. Thermal annealing programs hierarchical assembly, with first‐formed interactions biasing the final morphology: short hydrophobic chain strands form DX‐tiles and then into stars, while long‐chain strands form SNAs and ...
Yihao Wu, Muhammad Ghufran Rafique, Christopher Saab, Hanadi Sleiman   +3 more
wiley   +2 more sources

Afterword

Les Ateliers de l’Ethique, 2019
Université de Montréal
doaj   +1 more source

The International Consortium for Arthrogryposis: A Collaborative Framework for Early Detection, Care, Research, and Education

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is a group of rare congenital conditions, characterized by multiple joint contractures but may involve any body system including central nervous system. AMC is etiologically heterogeneous, with over 400 genetic and many non‐genetic causes implicated in its prenatal development.
Shahrzad Nematollahi, Noa Bouzaglo, Victoria Castillo Sanchez, Johanna I. P. de‐Vries, Klaus Dieterich, Alicja Fafara, Isabel Filges, Philip Giampietro, Göknur Haliloğlu, Judith Hall, Coleman Hilton, Remco Jansen, Valentina Maestri, Carolina Navalon, Daniel Natera de Benito, Tony Pan, Ani Samargian, Bonita Sawatzky, Harold van Bosse, Paul A. Trainor, Noémi Dahan‐Oliel   +20 more
wiley   +1 more source

Covalent Organic Framework Colloids With Core‐Shell Donor/Acceptor Architecture and Ultralong‐Lived Charge‐Separated States

Angewandte Chemie, EarlyView.
Uniform core‐shell colloidal particles of Covalent Organic Frameworks (COFs) are synthesized by a seeded growth of electron‐acceptor COF shells on electron‐donor COF cores. The resulting p‐n heterojunction enables efficient separation of photogenerated charges, which persist for minutes. These core‐shell COFs show efficient CO2 photoreduction to CO and
Ting Yu, Cory Ruchlin, Tong Li, Mohammad Hossein Gohari, Zhechang He, Zeina Chamseddine, Chang Wan Kang, Dongling Ma, Dmytro F. Perepichka   +8 more
wiley   +2 more sources

Judicial Perspectives on Neurodiversity in Queensland Courts, Tribunals and Commissions: Experiences With Disclosure and Witness Credibility

Australian Journal of Social Issues, EarlyView.
ABSTRACT Little is known about the impacts of the disclosure, or the non‐disclosure, of medical conditions associated with neurodiversity in the context of court proceedings and hearings before tribunals and commissions. This paper examines the experiences of twenty‐three Queensland Judges, Magistrates, and Tribunal and Commission Members with ...
Danielle Bozin, Karen A. Sullivan, Vincent Denault, Catherine Kennon, Lucy Cradduck, Rachel Hews   +5 more
wiley   +1 more source