Results 141 to 150 of about 724,276 (304)

MİLAS AHMET ÇAVUŞ MAHALLESİ’NDEN ÇIKAN MOZAİKLER

Journal of Mosaic Research, 2009
A rescue excavation was conducted by Milas Museum in Ahmet Çavuş District in Milas after some remains of walls and mosaics in between on the floor has been discovered within a substructure dig in an open field. Excavatons were conducted on a 54 X 38.42 m
Abuzer KIZIL, H. ÖZYURT ÖZCAN
doaj  

Mosaic Ruler [PDF]

Science, 1970
openaire   +2 more sources

Combined Long‐Read Genome and Transcriptome Sequencing Establishes Novel Variants in MEGF8 as the Cause for Carpenter Syndrome Type 2

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Carpenter syndrome type 2 (CRPT2) is a rare autosomal recessive disease mainly characterized by craniosynostosis and polysyndactyly. CRPT2 is the rarer subtype of Carpenter syndrome (CRPTS) and is caused by biallelic variants in the multiple epidermal growth factor‐like domains 8 gene (MEGF8).
Kiana Rashidi, Bhavi P. Modi, Phillip A. Richmond, Massimo Mangino, Loryn Byres, Cassie McDonald, Joshua Dalmann, Simran Samra, Kate L. Del Bel, Anna Lehman, Jessica L. Zambonin, Stuart E. Turvey   +11 more
wiley   +1 more source

Mosaic Researches at Amisos, 1996

Journal of Mosaic Research, 2012
Çalışmaya konu olan taban mozaiği Samsun il merkezinin yaklaşık üç km. kuzeybatısındaki Toraman Tepe sırtlarında bulunan Amisos antik kentindeki yapılardan birine aittir.
Serdar AYBEK, Ali Kazım ÖZ
doaj  

35 Individuals With HUWE1‐Related Neurodevelopmental Disorder and Suggested Clinical Evaluations

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT HUWE1 (HECT, UBA, and WWE Domain Containing E3 Ubiquitin Protein Ligase1, OMIM 300697), located at Xp11.22, encodes a ubiquitin ligase that is highly conserved across species. Genetic variants in HUWE1 described in multiple independent studies cause X‐linked intellectual disability, including in the patients identified by Juberg, Marsidi, and ...
Mindy H. Li, Deziree L. Coleman, Kelsey Hogan, Danielle Luz, Lindsay Bhandari, Newell Belnap, Tiffany Busa, Charles Coutton, Klaus Dieterich, Svetlana Gorokhova, Clara Hildebrandt, Rachel Logan, Milena Mariani, Manuela Morleo, Vincenzo Nigro, John Pappas, Rachel Rabin, Kelly Schoch, Angelo Selicorni, Vandana Shashi, Rebecca Spillmann, Jennifer Sullivan, Charlotte Tardy, Samantha A. Schrier Vergano, Brock Grill, Kristin Baranano   +25 more
wiley   +1 more source

Unique Representation of a Mosaics Craftsman in a Roman Pavement from the Ancient Province Syria

Journal of Mosaic Research, 2012
The subject of this paper is the study of the figured representation of a mosaics-craftsman in a fragmentary pavement, preserved in the National Museum of Denmark in Copenhagen.
Luz NEIRA
doaj  

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

The Fate of the Antioch Mosaic Pavements: Some Reflections

Journal of Mosaic Research, 2012
The paper offers a short memory of the spectacular investigations carried out from 1930 to 1939 in the area of the ancient Antioch, and also remembers the fate of the more than a hundred mosaic pavements uncovered and unearthed in that site.
Claudia BARSANTI
doaj  

Complex Genetic Architecture in RASopathies: Constitutional PTPN11 and Mosaic RIT1 Pathogenic Variants Underlying Severe Noonan Syndrome With Adult‐Onset Acute Myeloid Leukemia

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Noonan syndrome (NS) is a genetically heterogeneous disorder characterized by a broad spectrum of clinical features resulting from dysregulation of the RAS/MAPK pathway. Although complex genotypes are increasingly recognized in NS, cases harboring two distinct pathogenic variants in different NS genes remain extremely rare.
Francesco Prevedello, Dario Seif Ali, Chiara Piccolo, Chiara Rigon, Monica Forzan, Elena Tacchetto, Roberta Palmitessa, Davide Calosci, Leonardo Salviati, Carmela Gurrieri, Eva Trevisson   +10 more
wiley   +1 more source

Mosaic Inverted Hemagglutinin Extracellular Vesicle Vaccines Elicit Protective Systemic and Mucosal Immunity against Heterosubtypic Influenza Infection. [PDF]

ACS Nano
Zhu W, Wei L, Dong C, Kim JK, Bruhn M, Ma Y, Ferrante A, Arsana A, Omotara P, Kang SM, Wang BZ.   +10 more
europepmc   +1 more source