Results 61 to 70 of about 2,017,631 (280)

Entering the Door [PDF]

open access: yes, 2018
How do physical limitations affect the mind, and how can you overcome them? Imagine one day you wake up bound by physical limitations. What can you do?
Simon, Johnson
core  

Flower color variation in Digitalis purpurea: Pollination and soil influences across native and introduced populations

open access: yesAmerican Journal of Botany, EarlyView.
Abstract Premise Flower color, a key trait influencing plant–pollinator interactions, may be influenced by abiotic factors such as soil. We investigated association between pollinators, soil characteristics, and flower color variations in Digitalis purpurea across native populations in Sweden and introduced populations in Bolivia.
Sissi Lozada‐Gobilard   +6 more
wiley   +1 more source

Human Inborn Errors of Immunity: 2019 Update of the IUIS Phenotypical Classification. [PDF]

open access: yes, 2020
Since 2013, the International Union of Immunological Societies (IUIS) expert committee (EC) on Inborn Errors of Immunity (IEI) has published an updated phenotypic classification of IEI, which accompanies and complements their genotypic classification ...
Ailal, Fatima   +18 more
core  

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

open access: yesAmerican 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   +6 more
wiley   +1 more source

Albinism in a raccoon Procyon lotor from Mexico

open access: yesMammalogy Notes, 2021
Albinism is defined as the complete absence of pigment in skin, hair, and eyes directly caused by a hereditary disorder in the production of melanin. This genetic abnormality is usually attributed to environmental factors such as low quality of habitat ...
Rafael Flores-Peredo   +2 more
doaj  

Mutational spectrum of the AP3B1 gene in an Iraqi family affected with Hermansky–Pudlak syndrome type 2

open access: yesEgyptian Journal of Medical Human Genetics, 2023
Background Hermansky–Pudlak syndrome type 2 (HPS2) is a rare autosomal recessive inherited disease present with partial oculocutaneous albinism, nystagmus, prolonged bleeding time, and immunodeficiency. Case presentation We aimed at identifying a genetic
Mostafa Neissi, Adnan Issa Al-Badran
doaj   +1 more source

Albinism : a case report [PDF]

open access: yes, 1973
Albinism means the absence of cutaneous pigments. This is a rare hereditary disorder of the skin found in all races. The basic defect is an inherent deficiency of the enzyme tyrosinase usually found in melanocytes. Albinism can be total or partial.
Psaila, Angelo J.
core  

String Figuring young children's perspectives of quality in English early childhood education and care

open access: yesBritish Educational Research Journal, EarlyView.
Abstract Quality in early childhood education and care (ECEC) is a contested concept and has generally been conceptualised by inter‐related indicators such as staff qualifications, educational environment, policy or child‐to‐staff ratios. There has been a more limited emphasis on how young children might perceive and experience quality.
Nikki Fairchild, Éva Mikuska
wiley   +1 more source

Making the invisible visible [PDF]

open access: yes, 2016
In this review, I will discuss how careful scrutiny of genetic skin disorders could help us to understand human biology. Like other organs, the skin and its appendages, such as hairs and teeth, experience fundamental biological processes ranging from ...
Ando   +74 more
core   +2 more sources

The detection of partial albinism at three species of bats (Mammalia: Chiroptera) in European part of Russia.

open access: yes, 2014
The first time for the territory of European Russia describes the cases of catching bats with signs of albinism. This article describes the detection of three species of bats with partial albinism in European part of Russia.
D. Smirnov   +3 more
semanticscholar   +1 more source

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