Results 91 to 100 of about 145,893 (342)
Genetic and prenatal diagnosis of a Chinese pedigree with pathogenic TOE1 variants causing pontocerebellar hypoplasia type 7 [PDF]
Hongmei Guo +8 more
openalex +1 more source
Binder's Syndrome also known as Maxillo-Nasal Dysplasia is a developmental disorder primarily affecting the anterior part of the maxilla and nasal complex (nose and jaw). It is a rare disorder and the causes are unclear.
Babu, SG +3 more
core
Medical Genetic Counseling Of Women With Congenital Heart Diseases Of Fetus [PDF]
Aim of the work. Determine the effectiveness of prenatal diagnosis of congenital heart defects in the fetus and the informativeness of different markers used in the medical-genetic counseling of pregnant women..Materials and methods.
Helner, N. (Nadiya) +3 more
core +3 more sources
Truth‐telling in the Australian Curriculum
Abstract Unlike Canada and South Africa, Australia has not completed a national Truth‐telling of First Nations histories. As a consequence, the curriculum is at risk of excluding Truth‐telling, leading to indoctrination of past injustices as part of school learning.
Glenn Auld +29 more
wiley +1 more source
We have reported a case of Yunis-Varon syndrome which is a rare, autosomal recessive syndrome characterized by growth retardation, defective growth of the cranial bones, characteristic facial features, abnormalities of the fingers and/or toes ...
Dal, SI, Parmar, P
core +1 more source
Abstract Background Robinow syndrome is a rare developmental syndrome caused by variants in genes in Wnt signaling pathways. We previously showed that expression of patient variants in Dishevelled 1 (DVL1) in Drosophila and chicken models disrupts the balance of canonical and non‐canonical Wnt signaling.
Gamze Akarsu +4 more
wiley +1 more source
Women with hypoplastic endomentrium: getting ready for pregnancy [PDF]
Different pathological conditions (endocrinopathies, infectious agents prior to repeated intrauterine manipulations, the presence of functionally defective receptors endometrial tissue to the corresponding steroid hormones, progesterone ...
S Yu Kalinchenko +3 more
doaj
Regional odontodysplasia with supernumerary teeth in pediatric patients: Coincident/new finding?
Regional odontodysplasia is a rare developmental dental anomaly affecting both primary and permanent dentition in any of the jaws with uncertain etiology.
Vela D Desai +3 more
doaj +1 more source
Üner Tan Syndrome: Review and Emergence of Human Quadrupedalism in Self-Organization,\ud Attractors and Evolutionary Perspectives\ud [PDF]
The first man reported in the world literature exhibiting habitual quadrupedal locomotion was discovered by a British traveler and writer on the famous Baghdat road near Havsa/Samsun on the middle Black-Sea coast of Turkey (Childs, 1917).
Karaca, Dr. Sibel +3 more
core
Abstract Background Gene transcription is crucial for embryo and postnatal development and is regulated by the Mediator complex. Mediator is comprised of four submodules, including the kinase submodule (CKM). The CKM consists of MED13, MED12, CDK8, and CCNC.
Anna K. Leinheiser +5 more
wiley +1 more source

