Results 171 to 180 of about 1,108,007 (376)

Natural dairy cow health [PDF]

, 2011
guide to keeping your herd healthy with herbs and other natural ...
Groot, Maria, Hansma, Hanneke, Kleijer-Ligtenberg, Gerdien, van Asseldonk, Tedje   +3 more
core  

Patient With Prolidase Deficiency due to an Homozygous PEPD Variant, Induced by Paternal Uniparental Isodisomy of Chromosome 19

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Uniparental disomy (UPD) is a rare phenomenon in which both copies of a chromosome are inherited from a single parent. This can lead to genomic imprinting disorders and recessive disorders due to the presence of recessive pathogenic variants in both alleles. Additionally, depending on the mechanisms by which UPD occurs, mosaic aneuploidies may
Marta Carreño‐Hidalgo, Raquel Muñoz‐Siles, Vanesa López‐González, Lidia Carreño‐Gago, Lluís Armengol Dulcet   +4 more
wiley   +1 more source

Flow and particle deposition using an integrated CFD model of the respiratory system [PDF]

, 2011
This paper was presented at the 3rd Micro and Nano Flows Conference (MNF2011), which was held at the Makedonia Palace Hotel, Thessaloniki in Greece.
3rd Micro and Nano Flows Conference (MNF2011), Alexopoulos, AH, Karakosta, P, Kiparissides, C   +3 more
core  

AP2M1 Is a Candidate Gene for Microcephaly and Intellectual Disability in 3q27.1 Deletions

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Deletions of the 3q26.33q27.2 region appear to correlate with a distinct phenotype, although there are few reported cases. Here, we present seven previously unreported individuals carrying de novo 3q27 deletions (under 5 Mb), which include the AP2M1 (adaptor‐related protein complex 2, mu‐1 subunit) gene and summarize data from 12 previously ...
Russell Gear, Paul Kalitsis, Melissa Glass, Bertrand Isidor, Catherine Vincent‐Delorme, Florence Petit, Judith M. A. Verhagen, Alexander Jorge, Ana Cristina Victorino Krepischi, Ikeoluwa Osei‐Owusu, Eva Martinez, Anne O'Donnell‐Luria, Nicole de Leeuw, Sarah Ruggiero, Ingo Helbig, Francis David I, Natasha J. Brown   +16 more
wiley   +1 more source

Post-viral lung diseases: the microbiota as a key player

ERJ Open Research
Viral infections of the respiratory tract can lead to chronic lung injury through immunopathological mechanisms that remain unclear. Communities of commensal bacteria colonising the respiratory tract, known as the respiratory tract microbiota, are ...
Sabine V. Stadler, Christophe von Garnier, Niki D. Ubags   +2 more
doaj   +1 more source

The State of the Nitric Oxide Cycle in Respiratory Tract Diseases. [PDF]

Oxid Med Cell Longev, 2020
Soodaeva S, Klimanov I, Kubysheva N, Popova N, Batyrshin I.   +4 more
europepmc   +1 more source

An International ASXL3 Natural History Study: Deep Phenotypic Analyses Including Detailed Reports of a Milder Phenotype, Novel Associations, and Clinical Recommendations

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Natural History Studies can help inform clinician and caregiver expectations, form the basis of management guidelines, and provide a comparator for therapeutic intervention. In rare conditions, where collection of prospective longitudinal data is untimely and impractical, quasi‐natural history data—from multiple individuals of different ages ...
E. Woods, N. Holmes, A. S. Denommé‐Pichon, M. Vincent, N. Belova, C. Gooch, B. Isidor, C. W. Ockeloen, E. Pavlidou, H. Stewart, V. J. M. Verhoeven, A. Ververi, A. Dixit, A. Sarkar, R. Legg, E. Reid, M. Balasubramanian   +16 more
wiley   +1 more source

Diseases of the upper respiratory tract, the nose, pharynx and larynx. By P. Watson Williams, M.D. (London), Physician in charge of the Throat Department at the Bristol Royal Infirmary; Physician to the Bristol Institute for the Deaf and Dumb. Fourth Edition, octavo, cloth, 436 pages, 207 illustrations, 12 colored plates and 20 stereoscopic plates, together with portable stereoscope. Price, $6.00. Publishers, Longmans, Green & Co., New York, London and Bombay, 1901

, 1901

openalex   +1 more source

The potential of methylxanthine-based therapies in pediatric respiratory tract diseases.

Respiratory Medicine, 2016
Ainhoa Oñatibia-Astibia, E. Martínez-Pinilla, R. Franco   +2 more
semanticscholar   +1 more source

Neuroaxonal Dystrophy With Osteopetrosis Associated With a Novel Biallelic Nonsense Homozygous Variant in BORCS5

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Neuroaxonal dystrophy (NAD) with osteopetrosis syndrome (OMIM # 600329) was first reported in a consanguineous Moroccan Jewish family. However, to date, no genetic variant has been linked to this disease. We report on sibs, born to consanguineous Pakistani parents identified prenatally with cerebral ventriculomegaly and agenesis of the corpus ...
Yael Fisher, Orli Greenberg, Patrick Shannon, Andrea Staines, Bobbi McGivern, Melanie Patricia Napier, David Chitayat   +6 more
wiley   +1 more source