Results 81 to 90 of about 147,278 (285)

A A new diploid cytotype of Agrimonia pilosa (Rosaceae)

open access: yesCaryologia, 2020
A new diploid cytotype of Agrimonia pilosa Ledebour (Rosaceae) collected in China has been revealed. Karyotype formula is 2n = 2x = 16 = 14m + 2sm. Previously, chromosome numbers in A.
Elizaveta Mitrenina   +5 more
doaj   +1 more source

A novel three-colour fluorescence in situ hybridization approach for the detection of t(7;12)(q36;p13) in acute myeloid leukaemia reveals new cryptic three way translocation t(7;12;16) [PDF]

open access: yes, 2013
© 2013 by the authors; licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution license (http://creativecommons.org/licenses/by/3.0/).The t(7;12)(q36;p13 ...
Abdulbasit Naiel   +14 more
core   +2 more sources

The 9th International RASopathies Symposium

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The RASopathies are a group of congenital disorders with overlapping clinical manifestations that are caused by pathogenic germline or early somatic variants that result in the hyperactivation of the RAS/mitogen‐activated protein kinase (MAPK) signaling pathway.
Pau Castel   +41 more
wiley   +1 more source

Karyotypes of three species of marine catfishes from Brazil

open access: yesBrazilian Journal of Oceanography, 1994
The chromosomes of three species of fishes belonging to the family Ariidae -Netuma barba, Genidens genidens and Amis parkeri - were studied after conventional Giemsa staining. All three species have a diploid chromosome number of 2n = 56.
Vicente Gomes   +2 more
doaj   +1 more source

Novel MYL1 Intron Variant With Expanded Phenotype

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Congenital myopathy‐14 (CMYO14) is an ultrarare autosomal recessive disorder caused by biallelic variants in MYL1, with only four patients reported to date. We describe what is likely the fifth reported patient, a neonate with severe hypotonia, respiratory insufficiency, and skeletal anomalies showing distinct histological changes of skeletal ...
Maria Barington   +7 more
wiley   +1 more source

The lowest chromosome number in the family Pteromalidae (Hymenoptera: Chalcidoidea): the karyotype and other genetic features of Pachycrepoideus vindemmiae (Rondani, 1875)

open access: yesВавиловский журнал генетики и селекции
Various genetic features of the hitman strain of the widespread parasitoid of Drosophilidae (Diptera), Pachycrepoideus vindemmiae (Rondani, 1875) (Pteromalidae, Pachyneurinae) were studied.
V. E. Gokhman   +3 more
doaj   +1 more source

Late Onset Telomere Biology Disorder Presenting With Pancytopenia, Immune Dysregulation, Interstitial Lung Disease and Alopecia

open access: yes
American Journal of Hematology, EarlyView.
Bo A. Wan   +7 more
wiley   +1 more source

Facilitating Genetic Testing for Perinatal Demise: Development of a Multidisciplinary Workflow

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genetic contributors to perinatal demise are common but frequently undiagnosed due to clinical and logistical barriers. We aimed to improve access to genetic for intrauterine fetal demise (IUFD), stillbirth, and early neonatal death by developing a multidisciplinary workflow.
Mackenzie Mosera   +15 more
wiley   +1 more source

Karyological Features of the Genus Planorbarius (Gastropoda, Pulmonata, Bulinidae) of the Ukranian Fauna [PDF]

open access: yes, 2007
The absence of significant distinctions between the species of the genus Planorbarius in the narrow sense (P. corneus, P. banaticus, P. purpura, and P. grandis) has been established. All investigated species had identical chromosomal formulas (2n= 30 m +
Garbar, А. V., Гарбар, Д. А.
core  

Magnetic Resonance Imaging as a Complementary Diagnostic Tool for Aplastic Anemia

open access: yes
American Journal of Hematology, EarlyView.
Jeanette Walter   +6 more
wiley   +1 more source

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