Results 191 to 200 of about 695,523 (289)

Optimizing Diagnostic Accuracy of Clinical Red Flags in RASopathies

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT RASopathies are a group of genetic disorders caused by pathogenic variants in the RAS‐mitogen‐activated protein kinase (RAS–MAPK) signaling pathway, often presenting with congenital heart defects, craniofacial dysmorphisms, and developmental delays. To assess the diagnostic yield of genetic testing in patients with suspected RASopathies and to
Emanuele Bobbio, Martina Caiazza, Emanuele Monda, Giustina Aruta, Alberto Budillon, Augusto Esposito, Adelaide Fusco, Annapaola Cirillo, Marta Rubino, Immacolata Viscovo, Gioacchino Scarano, Matteo Della Monica, Vincenzo Nigro, Giulio Piluso, Leandro Pecchia, Maria Giovanna Russo, Giuseppe Limongelli   +16 more
wiley   +1 more source

Commonalities in rehabilitation data across diverse health conditions: a comparison of seven large European databases. [PDF]

J Rehabil Med
Kiekens C, Burger H, Capodaglio P, Ceravolo MG, Janssen E, Jurenaite G, Malfitano C, Pennestri F, Selles R, Tartaglia GM, Negrini S.   +10 more
europepmc   +1 more source

Biallelic Germline Inactivation of HROB Causes Primary Gonadal Insufficiency and is Potentially Associated with Colonic Polyposis Predisposition

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The Homologous Recombination Factor With OB‐Fold (HROB) plays a role in homologous recombination and DNA replication, where it enhances the MCM8‐MCM9 helicase complex activity. Recent findings link biallelic germline HROB variants to primary gonadal insufficiency (hypergonadotropic hypogonadism), a phenotype also associated with MCM8/MCM9 ...
Noah C. Helderman, Carli M. Tops, Jelmer Legebeke, Ting Yang, Marcos Díaz Gay, Diantha Terlouw, Lisa E. E. L. O. Lashley, Stefan Aretz, Anna K. Sommer, Mariona Terradas, Laura Valle, Richarda M. de Voer, Ludmil B. Alexandrov, Hans Morreau, Tom van Wezel, Maartje Nielsen   +15 more
wiley   +1 more source

Genomic Analysis of Botanical Collections: opportunities and challenges. [PDF]

Plant Cell
Deglialberti M, Paleni C, Fainelli F, Lambertini C, Manrique S.   +4 more
europepmc   +1 more source

Tridactyl tracks from the Lavini di Marco dinosaur ichnosite (Hettangian, Southern Alps, NE Italy). Ichnotaxonomical review and palaeobiogeography [PDF]

, 2019
Antonelli, M., Bernardi, M., Conti, J., Petti, F. M., Pignatti, J., Sacco, E., Tomasoni, R.   +6 more
core  

The Homozygous p.(Arg215Ter) Variant in XRCC2 Is Associated With Atypical Fanconi Anemia Without Major Hematological Abnormalities in Childhood

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Fanconi Anemia (FA) is the most frequent inherited bone marrow failure syndrome. A role for the XRCC2 gene in FA was suspected in 2012 and confirmed in 2016, but only two affected individuals have been described thus far, and no long‐term follow‐up is available.
Sabina Cenciarelli, Giulia Bruna Marchetti, Maria Iascone, Maria Grazia Patricelli, Sara Giangiobbe, Gabriella Cinzia Pozzobon, Miriam Nella Savini, Fabio Giglio, Alessandro Aiuti, Paola Carrera, Francesca Ferrua, Angela Peron   +11 more
wiley   +1 more source

A Robust Finite Element Method for Linearized Magnetohydrodynamics on General Domains. [PDF]

J Sci Comput
da Veiga LB, Lovadina C, Trezzi M.
europepmc   +1 more source

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

Early Ibrutinib Dose Modifications in CLL: A Post Hoc Analysis of the Real-World EVIdeNCE Study. [PDF]

Cancers (Basel)
Molica S, Scalzulli PR, Scarfò L, Minoia C, Murru R, Sportoletti P, Albano F, Di Renzo N, Sanna A, Laurenti L, Massaia M, Cassin R, Coscia M, Patti C, Pennese E, Tafuri A, Chiarenza A, Galieni P, Perbellini O, Selleri C, Califano C, Ferrara F, Cuneo A, Murineddu M, Palumbo G, Scortechini I, Tedeschi A, Trentin L, Varettoni M, Pane F, Merli F, Morello L, Musuraca G, Tani M, Ibatici A, Palma M, Arienti D, Mauro FR.   +37 more
europepmc   +1 more source

Stra�burg: Numérisation d'ouvrages anciens der Université Louis Pasteur

netbib, 2006
openaire   +1 more source