Results 11 to 20 of about 2,079 (212)
Diagnosis of Menke‐Hennekam syndrome by prenatal whole exome sequencing and review of prenatal signs [PDF]
Molecular Genetics &Genomic Medicine, Volume 11, Issue 9, September 2023., 2023 CREBBP missense mutations located at the 3′ end of exon 30 and the 5′ portion of exon 31 induce Menke‐Hennekam syndrome. To date, 35 patients are reported, and all diagnoses were made postnatally. We report the first prenatal diagnosis by whole exome sequencing of Menke‐Hennekam syndrome and further review the prenatal signs by a review of the ...
Guillaume Cogan +12 more
wiley +2 more sources
Genetic etiologies with a large NGS panel in a monocentric cohort of 1000 patients with pediatric onset epilepsies [PDF]
Epilepsia Open, Volume 10, Issue 4, Page 1065-1073, August 2025.Abstract Objective Genetic testing is now included in the diagnostic assessment of childhood onset epilepsies. We evaluated the yield of a targeted next generation sequencing (TNGS) panel dedicated to pediatric epilepsies. Methods We tested by TNGS panel 1000 consecutive patients presenting with childhood onset epilepsies and including mainly patients ...
Giulia Barcia +21 more
wiley +2 more sources
COG6‐related prenatal phenotype (CDG2L): Clinico‐pathological report and review of the literature [PDF]
Molecular Genetics &Genomic Medicine, Volume 13, Issue 4, April 2025.Abstract Background CDG2L (MIM#614576) is an autosomal recessive multisystemic disorder due to variants in COG6 gene. Postnatal phenotypes are now well described, while prenatal presentations remain poorly investigated. Only 8 of the 28 published patients have had prenatal ultrasound anomalies reported and no one post‐mortem investigation.
Sarah Guterman +17 more
wiley +2 more sources
INRAE Productions Animales, 1993 La durée de mastication des rations est une donnée importante à prendre en compte lorsqu’on rationne des vaches laitières. C’est pourquoi les résultats obtenus pour 26 rations ont été récapitulés et ajoutés à 14 autre déjà publiés.
J.P. DULPHY +3 more
doaj +4 more sources
A highly conserved Poc1 protein characterized in embryos of the hydrozoan Clytia hemisphaerica: localization and functional studies. [PDF]
PLoS ONE, 2010 Poc1 (Protein of Centriole 1) proteins are highly conserved WD40 domain-containing centriole components, well characterized in the alga Chlamydomonas, the ciliated protazoan Tetrahymena, the insect Drosophila and in vertebrate cells including Xenopus and
Cécile Fourrage +2 more
doaj +2 more sources
African Journal of Ecology, Volume 60, Issue 4, Page 917-925, December 2022., 2022 Abstract The Overberg area, Western Cape, South Africa is highly suitable for agricultural practices and has subsequently been severely transformed over the last four centuries. This has created a novel habitat for many wildlife species. The objective of this study was to determine the forage use of five antelope species and thereby assess their level ...
Amauréé Jansen van Vuuren +2 more
wiley +1 more source
African Journal of Ecology, Volume 59, Issue 4, Page 826-841, December 2021., 2021 Abstract High density of herbivore populations can lead to intense foraging competition and depletion of food consequently lowering diet quality and population performance. We tested for the effects of the density of eastern black rhinoceros (Diceros bicornis michaeli) in nine in situ populations of 0.01–0.7 individuals per km2 density range on the ...
Benson Okita‐Ouma +3 more
wiley +1 more source
African Journal of Ecology, Volume 59, Issue 1, Page 2-16, March 2021., 2021 Abstract Plant available moisture and plant available nutrients in soils influence forage quality and availability and subsequently affect reproductive performance in herbivores. However, the relationship of soil moisture, soil nutrients and woody forage with reproductive performance indicators is not well understood in mega‐browsers yet these three ...
Benson Okita‐Ouma +5 more
wiley +1 more source
, 2016 Incendie du parc à fourrage - 15 juin 1916 Incendie du parc à fourrage - 15 juin 1916 Incendie du parc à fourrage - 15 juin 1916 Incendie du parc à fourrage - 15 juin 1916 Incendie parc à fourrage Incendie parc à fourrage En guise de texte ...
JM
openaire +2 more sources
Revue d’Elevage et de Médecine Vétérinaire des Pays Tropicaux, 1994 Des études menées à la station de recherches zootechniques de Wakwa ont montré que la fertilisation minérale améliorait de manière significative la production fourragère des parcours. Cependant, compte tenu du coût, de la faible disponibilité des engrais,
E.T. Pamo, Samuel Yonkeu
doaj +1 more source