Results 211 to 220 of about 163,521 (283)

Optical genome mapping of a complex structural rearrangement family line on chromosome 18. [PDF]

Hereditas
Cai L, Jiang Y, Zhang N, Chen X.
europepmc   +1 more source

Recent Advances in Thalassemia Research: A Comprehensive Assessment From Diagnostic Technologies to Clinical Treatment

Journal of Clinical Laboratory Analysis, EarlyView.
Thalassemia, a common hereditary blood disorder causing impaired globin synthesis and related complications, has seen remarkable progress in recent years due to advancements in genomics and molecular biology. Researchers have identified various gene variants related to thalassemia and improved clinical diagnostic methods, including new genetic testing ...
Chaoqiong Zhou, Ting Chen, Ying Huang, Huali Wang, Dahai He, Feng Wu, Yan Zhang, Lirui Kong   +7 more
wiley   +1 more source

Replication program of a single-chromosome budding yeast strain. [PDF]

Nucleic Acids Res
Pellet J, Lacroix L, Theulot B, Simonin Chavignier E, Tourancheau A, Proux F, Hermann-Le Denmat S, Millot GA, Le Tallec B, Hyrien O.   +9 more
europepmc   +1 more source

Klippel‐Trénaunay‐Weber Syndrome: Prenatal Diagnosis and Review of the Literature

Journal of Clinical Ultrasound, Volume 53, Issue 3, Page 535-546, March/April 2025.
This meta‐analysis demonstrates the high diagnostic accuracy of SZ‐CEUS for differentiating between malignant and benign focal liver lesions, as well as for HCC from non‐HCC lesions. The study shows better performance for smaller lesions and those with a higher proportion of malignancy.
Giuliana Orlandi, Laura Sarno, Antonio Angelino, Mariarosaria Motta, Raffaella Di Girolamo, Luigi Carbone, Marika Rovetto, Laura Letizia Mazzarelli, Gabriella Sglavo, Francesco D' Antonio, Ilenia Mappa, Daniele Di Mascio, Giuseppe Rizzo, Giuseppe Maria Maruotti   +13 more
wiley   +1 more source

A Complex Neurodevelopmental Phenotype Resembling a Chromatinopathy With Concurrent 7p Duplication and 10p Deletion Involving ZMYND11: A Case Report and Literature Review. [PDF]

Mol Genet Genomic Med
Minale EMP, Martone S, Criscuolo C, Marra R, Lasorsa VA, Ruggiero R, Suero T, Capasso M, Andolfo I, Iolascon A, Russo R, Pinelli M.   +11 more
europepmc   +1 more source

The novel pseudo-compound transposon Tn<i>7086</i> carries aminoglycoside resistance genes in <i>Enterococcus faecalis</i>. [PDF]

Microb Genom
Colombini L, Tirziu M, De Giorgi S, Cuppone AM, Sangiorgio G, Bonomo C, Bongiorno D, Stefani S, Ricci S, Pozzi G, Santoro F, Iannelli F.   +11 more
europepmc   +1 more source

Generation of human induced pluripotent stem cell lines derived from Wolf-Hirschhorn syndrome patients with chromosomal 4p deletion. [PDF]

Hum Cell
Shimizu T, Takami M, Matsuo-Takasaki M, Noguchi M, Nakamura Y, Hayata T, Hayashi Y.   +6 more
europepmc   +1 more source

Deficiency in homozygous haplotypes reveals recessive lethal variants affecting fertility and viability in the Friesian horse. [PDF]

BMC Genomics
Steensma MJ, Ducro BJ, Doekes HP, Dibbits B, Groenen MAM, Derks MFL.   +5 more
europepmc   +1 more source

Adaptive evolution of <i>Pseudomonas putida</i> in the presence of fluoride exposes novel functions of a benzoate transporter. [PDF]

J Bacteriol
Ets L, Ilves H, Juhe L, Ilmjärv T, Puiggené Ò, Nikel PI, Kivisaar M.   +6 more
europepmc   +1 more source