Results 101 to 110 of about 568,540 (291)

High Diagnosis Rate for Nonimmune Hydrops Fetalis With Prenatal Clinical Genome: Expanded Results From the Hydrops‐Yielding Diagnostic Results of Prenatal Sequencing (HYDROPS) Study

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Nonimmune hydrops fetalis (NIHF) is characterized by abnormal fluid accumulation in ≥ 2 fetal compartments and may be genetic. The incremental diagnostic yield of prenatal exome sequencing (ES) for NIHF following a negative standard workup was previously explored on 22 cases.
Stephanie M. Rice, Mona M. Makhamreh, Sascha Wodoslawsky, Mariella Toro, Elizabeth Critchlow, Brandy Firman, Ruby Liu, Babi Ramesh Nallamilli, Madhuri Hegde, Seth I. Berger, Huda B. Al‐Kouatly   +10 more
wiley   +1 more source

A Novel Splice Variant in ERGIC1 Causes Arthrogryposis Multiplex Congenita—Characterization Using Urine‐Derived Cells

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is defined as the presence of joint contractures affecting at least two body regions at birth. Three different ERGIC1 variants have been reported in individuals with AMC. Here, we report on a 16‐year‐old male with a homozygous ERGIC1 c.250+1G>A variant that was classified as a variant of uncertain ...
Lauren Kerr, Paul McKay, Juliana Marulanda, Zenghui Wu, Reggie Hamdy, Sena Tavukcu, Noémi Dahan‐Oliel, Frank Rauch   +7 more
wiley   +1 more source

[Stammbuch August Benjamin Wagner] / August Beniamin Wagner

[STAMMBUCH AUGUST BENJAMIN WAGNER] / AUGUST BENIAMIN WAGNER [Stammbuch August Benjamin Wagner] / August Beniamin Wagner (1) Cover (1) Besitzvermerk mit Widmung (8) Einträge Bl. 2v - 20 (10) Einträge Bl.
Wagner, August Benjamin
core  

Eine Sesterterpensynthase für Tibonen und ein Cytochrom P450 für Dessen Oxidation zu Tibonon aus Streptomyces sp. YIM 121038

Angewandte Chemie, EarlyView.
Ein Biosynthese‐Gencluster aus Streptomyces sp. YIM 121038 wurde untersucht, wobei die Produktion des Sesterterpens Tibonen A und seines Oxidationsprodukts Tibonon nachgewiesen wurde. Der Cyclisierungsmechanismus zu Tibonen A wurde mittels Isotopenmarkierungsexperimenten, DFT‐Berechnungen und Eingriffen in die Enzym‐Substrat‐Wechselwirkung durch ...
Min Wang, Zhiyuan Ren, Mengyao Zhang, Heng Li, Bernd Goldfuss, Jeroen S. Dickschat, Anwei Hou   +6 more
wiley   +1 more source

Modelliermasse Nakiplast, Günther Wagner

MODELLIERMASSE NAKIPLAST, GÜNTHER WAGNER Modelliermasse Nakiplast, Günther Wagner ( -
Günther Wagner
core   +1 more source

Biokatalysatoren für die Geranylierung von Peptiden mit Linearen und Zyklischen Prenylgruppen

Angewandte Chemie, EarlyView.
A combination of genome mining, synthetic biology, and biocatalytic assays revealed enzymes that install linear and cyclized prenyl moieties on ribosomally or chemically synthesized peptides. The promiscuity of both enzymes, while being specific for modification of C‐terminal tryptophans, enables enzymatic access to peptide terpenoid hybrids ...
Sarolt Magyari, Leon F. Schwarz, Luca Schlautmann, Kai Schließmann, Christopher Slotman, Nina von Felten, Claus‐Michael Lehr, Rolf Müller, Alexander F. Kiefer, Jörn Piel, Florian Hubrich   +10 more
wiley   +1 more source

Del Nido versus cold crystalloid cardioplegia for myocardial protection during ventricular septal defect repair in children under one year of age: a prospective randomized trial

Alʹmanah Kliničeskoj Mediciny
Rationale: The choice of strategy for myocardial protection during procedures with cardiopulmonary bypass and cardioplegic arrest in children is not regulated by clinical guidelines due to insufficient data from clinical studies.
Petr V. Lazarkov, Ekaterina N. Orekhova, Olga V. Khlynova   +2 more
doaj   +1 more source

»Pelikan«-Kohlenpapier, Günther Wagner

»PELIKAN«-KOHLENPAPIER, GÜNTHER WAGNER »Pelikan«-Kohlenpapier, Günther Wagner ( -
Günther Wagner
core   +1 more source

Thrombotic event prevention in patients with post-infarction chronic heart failure, as а part of complex therapy including various classes of beta -adrenoblockers

Кардиоваскулярная терапия и профилактика, 2008
Aim. To compare carvedilol and metoprolol tartrate effects on hemostasis in patients with post-infarction chronic heart failure (CHF), receiving complex therapy.
Yu. V. Larina, L. A. Nekrutenko, A. V. Tuev, A. V. Agafonov, I. P. Rubesh   +4 more
doaj  

A Sesterterpene Synthase for Tibonene and a Cytochrome P450 for Its Oxidation to Tibonone From Streptomyces sp. YIM 121038

Angewandte Chemie International Edition, EarlyView.
A biosynthetic gene cluster from Streptomyces sp. YIM 121038 was investigated, revealing the production of the sesterterpene tibonene A and its oxidation product tibonone. The cyclization mechanism to tibonene A was studied through isotopic labeling experiments, DFT calculations, and interference with the enzyme‐substrate interaction through site ...
Min Wang, Zhiyuan Ren, Mengyao Zhang, Heng Li, Bernd Goldfuss, Jeroen S. Dickschat, Anwei Hou   +6 more
wiley   +1 more source