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]

open access: diamond, 2023
Hongmei Guo   +8 more
openalex   +1 more source

Binder’s Syndrome [PDF]

open access: yes, 2011
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]

open access: yes, 2019
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

open access: yesThe Curriculum Journal, EarlyView.
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

Yunis Varon Syndrome [PDF]

open access: yes, 2010
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

Robinow syndrome DVL1 variants disrupt morphogenesis and appendage formation in a Drosophila disease model

open access: yesDevelopmental Dynamics, EarlyView.
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]

open access: yesГинекология, 2014
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?

open access: yesCHRISMED Journal of Health and Research, 2015
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]

open access: yes, 2012
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  

Heterozygous Med13l mice recapitulate a developmental growth delay and craniofacial anomalies seen in MED13L syndrome

open access: yesDevelopmental Dynamics, EarlyView.
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

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