Results 121 to 130 of about 42,244 (293)

An Adult Presentation of KIF11‐Related MCLID Syndrome: Case Report and 40‐Year Follow‐Up

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in KIF11 are linked to autosomal dominant syndromes with microcephaly, chorioretinopathy, lymphedema, and intellectual disability (MCLID), though adult presentations remain underreported. We report a 42‐year‐old female presenting with a de novo single‐amino acid in‐frame deletion in the KIF11 gene (c.1294_1296del; p ...
Thrishna Chathurvedula, Juvy Rabelas, Kareem Touleimat, Elaine Marchi, Ruhi Shah, Shaydah Kheradmand, Kuldeep Singh, Karen Amble, Gholson J. Lyon   +8 more
wiley   +1 more source

[Deux fauves combattant] : [estampe] / [Prosper Alphonse Isaac]

Référence bibliographique : IFF19 Isaac (Prosper-Alphonse), 18Appartient à l’ensemble documentaire ...
Isaac, Prosper Alphonse (1858-1924). Graveur
core  

Prosper Giquel, A Journal of The Chinese Civil War, 1864, traducción, introducción y notas de Steven A. Leibo, Honolulú, University of Hawaii Press, 1985, xviii + 163 pp.

Estudios de Asia y África, 1986
-
Marisela Connelly
doaj  

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

[Théière et tasse japonaises] : [estampe] / J [Prosper Alphonse Isaac] [monogr.]

, 1908
Référence bibliographique : IFF19 Isaac (Prosper-Alphonse), 17Appartient à l’ensemble documentaire ...
Isaac, Prosper Alphonse (1858-1924). Graveur
core  

Comparison Between ESP and Gas Lift in Buzurgan Oil field/Iraq

Journal of Engineering, 2018
Buzurgan oil Field which is located in south of Iraq has been producing oil for five decades that caused production to drop in many oil wells. This paper provides a technical and economical comparison between the ESP and gas lift in one oil well (Bu-16 ...
Abdul Aali Al Dabaj, Samaher AbdilRassol Lazim, Instructor, Omar Ayad Al-Sallami   +2 more
doaj  

Understanding Arthrogryposis Multiplex Congenita (AMC) Across the Lifespan: An Integrative Review of the Adult AMC Registry's Contributions With Lived Experience Partnerships

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT This reflective essay explores how collaborative work between researchers and adults living with Arthrogryposis Multiplex Congenita (AMC) has deepened and broadened our understanding of what it means to live with this rare condition. By intentionally integrating the lived experiences of individuals with AMC into research processes, the ...
Bonita J. Sawatzky, Megan K. MacGillivray, Tracey Schalk, William Bennett Mortenson   +3 more
wiley   +1 more source

[Champignon noir] : [estampe] / J [Prosper Alphonse Isaac] [monogr.]

, 1908
Référence bibliographique : IFF19 Isaac (Prosper-Alphonse), 18Appartient à l’ensemble documentaire ...
Isaac, Prosper Alphonse (1858-1924). Graveur
core  

Tours (Indre-et-Loire). Prosper Mérimée/Saint-Julien

Archéologie Médiévale, 2004
Henri Galinié, Élisabeth Lorans
doaj   +1 more source

Transition From Primary to Secondary School: Igniting Attendance and Engagement Among Aboriginal and Torres Strait Islander Students Through National Policy Reform

Australian Journal of Social Issues, EarlyView.
ABSTRACT Australia's Closing the Gap reform aims to address disparities experienced by Aboriginal and Torres Strait Islander peoples. There are specific targets focussed on key educational transitions; yet, the transition to secondary education is not a targeted priority.
Azhar Hussain Potia, Kai W. Wheeler, Tracy Woodroffe, Karen Thorpe   +3 more
wiley   +1 more source