Results 31 to 40 of about 1,418 (200)

Characterization of a de novo sSMC 17 detected in a girl with developmental delay and dysmorphic features [PDF]

Molecular Cytogenetics, 2017
The majority of small supernumerary marker chromosome cases arise de novo and their frequency in newborns is 0.04%. We report on a girl with developmental delay and dysmorphic features with a non-mosaic de novo sSMC that originated from the pericentric region of q arm in chromosome 17.The girl presented with developmental delay, speech delay, myopia ...
Stavber, Lana, Bertok, Sara, Kovač, Jernej, Volk, Marija, Lovrečić, Luca, Battelino, Tadej, Hovnik, Tinka   +6 more
openaire   +2 more sources

Small Supernumerary Marker Chromosomes (sSMCs): A Spotlight on Some Nomenclature Problems [PDF]

Journal of Histochemistry & Cytochemistry, 2009
Dear Editor, The international system for human cytogenetic nomenclature (ISCN) contains recommendations that have been developed with the understanding that not all situations can be fully described using the recommended conventions. One problem not fixed in the new ISCN 2009 (Shaffer et al.
openaire   +2 more sources

Neocentric small supernumerary marker chromosomes (sSMC) – three more cases and review of the literature [PDF]

, 2013
Here we report on three new patients with neocentric small supernumerary marker chromosomes (sSMC) derived from chromosome 2, 13 and 15, respectively. The sSMC(13) and sSMC(15) had inverted duplicated shapes and the sSMC(2) a ring chromosome shape.
Liehr, Thomas, Küchler, A., Bocian, E., Mrasek, K., Weise, A., Boduroglu, K., Pietracz, J., Rauch, Anita, Aktas, D., Utine, G. E., Trautmann, Udo, Kosyakova, N.   +11 more
core   +1 more source

Robust synergetic-sliding mode-based-backstepping control of induction motor with MRAS technique

Energy Reports, 2023
This paper proposes a new speed control of an induction motor (IM) drive, which is based the combination between the backstepping control (BC) and synergetic-sliding mode controller (SSMC).
Dalal Zellouma, Youcef Bekakra, Habib Benbouhenni   +2 more
doaj   +1 more source

wpeterman/ssmc: R package 'ssmc'

, 2017
<p>This release corresponds with the submission of a manuscript entitled "Using spatial demographic network models to optimize habitat creation, restoration, and preservation" for peer review publication.</p> <p><em>ssmc </em ...
William E Peterman
core   +1 more source

A placental trisomy 2 detected by NIPT evolved in a fetal small Supernumerary Marker Chromosome (sSMC) [PDF]

Molecular Cytogenetics, 2020
Abstract Background Non-invasive prenatal testing (NIPT) is a rapidly developing and widely used method in the prenatal screening. Recently, the widespread use of the NIPT caused a neglecting of the limitations of this technology.
Domaradzka, Justyna, Deperas, Marta, Obersztyn, Ewa, Kucinska-Chahwan, Anna, Brison, Nathalie, Van Den Bogaert, Kris, Roszkowski, Tomasz, Kedzior, Marta, Bartnik-Glaska, Magdalena, Luszczek, Alicja, Jakubow-Durska, Krystyna, Vermeesch, Joris Robert, Nowakowska, Beata Anna   +12 more
openaire   +3 more sources

Analytical Study of Management and Outcome of Burns in Pediatric Age Group in SSMC Rewa [PDF]

, 2023
Background: Fire has served as well as destroyed mankind. It is good servant but bad master. Since the evolution of man, he has created fire, which was a major source of energy for keeping warm under extreme temperature, source of cooking food and stay away from wild animal.
Saurabh Saxena, Alkesh Kumar Meena, Neha Shrivastava, Siddharth Jain   +3 more
openaire   +1 more source

Molecular delineation of small supernumerary marker chromosomes using a single nucleotide polymorphism array

Molecular Cytogenetics, 2020
Background Defining the phenotype-genotype correlation of small supernumerary marker chromosomes (sSMCs) remains a challenge in prenatal diagnosis. We karyotyped 20,481 amniotic fluid samples from pregnant women and explored the molecular characteristics
Lili Zhou, Zhaoke Zheng, Lianpeng Wu, Chenyang Xu, Hao Wu, Xueqin Xu, Shaohua Tang   +6 more
doaj   +1 more source

Beyond Technification: Ontological and Hermeneutic Foundations of Nursing Care

Nursing Inquiry, Volume 33, Issue 4, October 2026.
ABSTRACT In this article, we examine the ontological, hermeneutic, and temporal dimensions of nursing care to explore how contemporary nursing practice and professional identity may be understood beyond exclusively technical accounts of care. Drawing primarily on Heidegger's ontology and Gadamer's philosophical hermeneutics, and engaging with concepts ...
Antonio Vázquez‐Sellán, María Carmen Sellán‐Soto, Ginés Mateo‐Martínez   +2 more
wiley   +1 more source

Prenatal diagnosis and molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from chromosome 21q11.2-q21.1 and a literature review

Taiwanese Journal of Obstetrics & Gynecology, 2017
Objective: We present prenatal diagnosis and molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome (sSMC) derived from chromosome 21q11.2-q21.1, and we review the literature of an sSMC(21) with a duplication of ...
Chih-Ping Chen, Ming Chen, Chia-Hsun Wu, Chen-Ju Lin, Schu-Rern Chern, Peih-Shan Wu, Yen-Ni Chen, Shin-Wen Chen, Shun-Ping Chang, Li-Feng Chen, Wayseen Wang   +10 more
doaj   +1 more source