Results 31 to 40 of about 471,786 (305)

Atypical Clinical Course of Griscelli Syndrome Type 2 With Primarily Neurologic Presentation and Adult‐Onset in a 46‐Year‐Old Male

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Griscelli Syndrome Type 2 (GS2) is a rare autosomal recessive disorder caused by pathogenic mutations in the RAB27A gene. Typically, it is characterized by cutaneous hypopigmentation, immunodeficiency, with or without neurological abnormalities secondary to hemophagocytic lymphohistiocytosis (HLH). Without treatment, GS2 often results in fatal
Dzhoy Papingi, Michael Kutsche, Helena Lichtenfeld, Fanny Kortüm, Angela Abicht, Laura Herrmann, Theresia Herget   +6 more
wiley   +1 more source

Diagnostic Odyssey of Atypical Long‐Chain 3‐Hydroxyacyl‐CoA Dehydrogenase Deficiency (LCHADD) Explained by Three Allelic Products From Two Pathogenic Variants

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency (LCHADD) is an autosomal recessive mitochondrial defect of long‐chain fatty acid β‐oxidation, caused by biallelic pathogenic variants in HADHA or HADHB. We report a 22‐year‐old male with an atypically mild presentation of LCHADD who was referred to the Undiagnosed Diseases Network (UDN ...
Yutaka Furuta, Lynette C. Rives, T. Andrew Burrow, Thomas A. Cassini, Rory J. Tinker, Amy K. Robertson, Kimberly M. Ezell, Rizwan Hamid, Joy D. Cogan, John A. Phillips III   +9 more
wiley   +1 more source

Virtuelle Handlungen, reale Konsequenzen - Über Theatralität und die ästhetische Differenz des Digitalen

Textpraxis, 2016
Welche Rolle spielen virtuelle Handlungen für die Subjektkonstitution? Was bedeutet es, dass wir in Computerspielen auf jemanden schießen, in Chaträumen andere (Geschlechts-)Identitäten leben oder im Flugsimulator trainieren?
Scheidegger, Manuel
doaj   +1 more source

Response of an Infant With Presumed Multiple Acyl‐CoA Dehydrogenase Deficiency (MADD) to Ketone Supplementation

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Multiple Acyl‐CoA Dehydrogenase Deficiency (MADD) is an autosomal recessive inborn error of metabolism caused by biallelic pathogenic variants in one of three known genes: ETFA, ETFB, and ETFDH. It can cause multisystem dysfunction, including cardiomyopathy in severe cases.
Yutaka Furuta, Kaitlyn N. Bloom, Jerry Vockley, Angela R. Grochowsky, Neena S. Agrawal, Ellen W. Strickler, Natalie N. Owen, Erica T. Gray, B. Lakshitha A. Perera, Eric R. Gamazon, Lynette C. Rives, Hua‐Chang Chen, Qi Liu, Rizwan Hamid, Joy D. Cogan, John A. Phillips III, Thomas A. Cassini, Bryce A. Schuler   +17 more
wiley   +1 more source

GENERAL THEORY OF THE UNIVERSE

Модернизация, инновация, развитие, 2016
The World Creation and World genetic, energy and information Unity Theory is created. Created on its basis is a theory of the Creator’s Self-creation and of the Creation by Him of the World Basic Genome as basis for World evolution and his General Laws ...
B. A. Astafyev
doaj  

„Zur Freiheit bestimmt“ – Alexander von Humboldts Blick auf die Kulturen der Welt

HiN - Alexander von Humboldt im Netz. Internationale Zeitschrift für Humboldt-Studien, 2014
Im Zentrum des Beitrags von Frank Holl steht die Frage nach Humboldts Menschenbild und seiner Sicht auf die Kulturen der Welt. Der Autor sieht seinen Aufsatz als Weiterführung und Ergänzung der Auseinandersetzung mit der Initiative „NoHumboldt21“.
Frank Holl
doaj   +1 more source

Ribozyme für die RNA‐katalysierte Methylierung und Markierung von RNA

Angewandte Chemie, EarlyView.
Ribozyme sind vielseitige Werkzeuge für die präzise Modifikation von RNA. Das Reaktionsspektrum in‐vitro‐selektierter Ribozyme reicht vom Einbau funktioneller Gruppen und Fluorophoren bis zu natürlichen RNA‐Methylierungen. Dieser Übersichtsartikel präsentiert Cofaktor‐abhängige Ribozyme für die positionsgenaue Markierung und Modifikation von RNA ...
Carolin P. M. Scheitl, Claudia Höbartner   +1 more
wiley   +1 more source

“Muteber” Metin ve Hakikati

Nesir: Edebiyat Araştırmaları Dergisi
Muteber metin, edebî metinlerin otantik olmayan, sahte, kurgu olarak etiketlenerek mutlak hakikatten yoksunluğunun dile getirildiği bu yüzden de tıpkı inşa edildikleri gibi yapısökümlerinin de mümkün olduğunun öne sürüldüğü bir edebiyat eleştirisi ...
Hans-Georg Gadamer, Atiye Gülfer Gündoğdu   +1 more
doaj   +1 more source

The skeleton of the green Iguana iguana (Squamata: Iguanidae) and its intraspecific morphological variation

The Anatomical Record, EarlyView.
Abstract The green iguana (Iguana iguana) is an iguanine lizard with herbivorous and arboreal habits, whose distribution spans through South America, Central America to the south of North America. Although the genus Iguana is well‐known, the species still lacks a comprehensive and up‐to‐date anatomical study, particularly addressing the axial skeleton,
Vieno Rosa, Marcos Vinícius Coelho, Camila Cupello   +2 more
wiley   +1 more source

Drivers of tail evolution in squamates and their implications for the fossorial origin of snakes

The Anatomical Record, EarlyView.
Abstract The axial skeleton serves as the primary structural support in all vertebrates and is subdivided into five distinct regions: cervical, thoracic, lumbar, sacral, and caudal. Relaxation of constraints acting on the terminal end of the axial skeleton has led to remarkable variation in caudal vertebrae number across Squamata.
Olivia Binfield, Marco Camaiti, Lucy Roberts   +2 more
wiley   +1 more source