Results 131 to 140 of about 316,216 (289)
Case series: Joubert syndrome and eosinophilic esophagitis
JPGN Reports, EarlyView.Abstract Joubert syndrome (JS) is a rare genetic disorder characterized by developmental abnormalities, particularly in the brainstem and cerebellar vermis, alongside multisystem manifestations such as kidney and liver anomalies, polydactyly, cleft lip or palate, and tongue defects.
Jonathon Schening +5 more
wiley +1 more source
JPGN Reports, EarlyView.Abstract Infantile exocrine pancreatic insufficiency is a rare condition, most often encountered in the context of cystic fibrosis or Shwachman–Diamond syndrome. The SPINK1 gene encodes a trypsin inhibitor protein that prevents the premature activation of digestive enzymes in pancreatic tissue.
France Chalon +10 more
wiley +1 more source
Journal of Quaternary Science, EarlyView.ABSTRACT Sedimentary charcoal elongation is increasingly being used in paleoecology to distinguish herbaceous from woody fuel in past fires. However, the relationship between charcoal morphotypes and plant types has never been formally tested in tropical environments, despite its potential to improve understanding of fire regimes and deforestation, and
Fiona Cornet +12 more
wiley +1 more source
Stature and Status: Height, Ability, and Labor Market Outcomes [PDF]
It has long been recognized that taller adults hold jobs of higher status and, on average, earn more than other workers. A large number of hypotheses have been put forward to explain the association between height and earnings.
Anne Case, Christina Paxson
core
Airway Involvement in Conradi–Hünermann–Happle Syndrome: A Novel Clinical Manifestation
The Laryngoscope, EarlyView.We report the first documented case of airway involvement in Conradi–Hünermann–Happle syndrome (CDPX2), an X‐linked dominant form of chondrodysplasia punctata caused by pathogenic variants in EBP. A 2‐month‐old female with genetically confirmed CDPX2 developed severe subglottic stenosis and persistent respiratory distress requiring CPAP; cross ...
Enrique G. Villarreal +3 more
wiley +1 more source
International Registry of NKX2‐1‐Related Disorders: Clinical, Genetic, and Imaging Perspectives
Movement Disorders, EarlyView.Abstract Background NKX2‐1–related disorders result from heterozygous variants in NKX2‐1, a gene crucial for brain, lung, and thyroid development. Although movement disorders, hypothyroidism, and neonatal respiratory distress are recognized, the full phenotype and genotype–phenotype relationships remain incompletely defined.
Laia Nou‐Fontanet +47 more
wiley +1 more source
Alpine flora of Kashmir Himalaya: floristic assessment, life history traits and threat status
Nordic Journal of Botany, EarlyView.Alpine ecosystems in the Himalaya are considered to be at a higher risk to anthropogenic global change drivers. The Kashmir Himalaya, located in the north‐western side of the Himalayan biodiversity hotspot, harbors a diverse alpine flora, which remains systematically little investigated.
Bilal A. Rasray +5 more
wiley +1 more source
National Journal of Medical Research, 2014 Introduction: Estimation of height of an individual is important not only for anthropologists and forensic medicine personal but also for physical assessment of nutritional status of an individual by nutritionists and physicians.
Anwesa Pal +5 more
doaj
A Review of Bioarcheological Investigations in Iron Age Cambodia
International Journal of Osteoarchaeology, EarlyView.ABSTRACT Archeological research within Cambodia is quite extensive, with significant projects led by both Cambodian archeologists and international researchers alike. Many of these projects have uncovered human skeletal remains. This article reviews archeological human skeletal studies in Cambodia, synthesizing published and unpublished data, primarily
Sophorn Nhoem, Kate Domett, Nigel Chang
wiley +1 more source