Results 141 to 150 of about 860,870 (372)

Ocular Findings as the Most Striking Manifestation of a SMAD3 Variant

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Loeys‐Dietz syndrome (LDS) is a heritable connective tissue disorder with variable expressivity. It is a multisystemic condition mainly characterized by a propensity for arterial aneurysms and dissections, skeletal manifestations, hypertelorism, bifid uvula, craniosynostosis, and cutaneous features.
Noémie Villeneuve‐Cloutier   +7 more
wiley   +1 more source

Special Libraries, November 1940 [PDF]

open access: yes, 1940
Volume 31, Issue 9https://scholarworks.sjsu.edu/sla_sl_1940/1008/thumbnail ...
Special Libraries Association
core   +3 more sources

Chromosome 3q22.2‐q26.2 Interstitial Deletion in a Patient With Wisconsin Syndrome, Blepharophimosis‐Ptosis‐Epicanthus Inversus Syndrome, Dandy‐Walker Malformation, Pierre Robin Sequence, and Recurrent Infections

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Wisconsin syndrome is a very rare genetic condition characterized by coarse facies, prominent nasal tip, bushy high arched/upsweeping eyebrows, and a full/everted lower lip. Deletion of chromosome 3q24q25 region is considered critical for its manifestation.
Pankaj Prasun   +2 more
wiley   +1 more source

AP2M1 Is a Candidate Gene for Microcephaly and Intellectual Disability in 3q27.1 Deletions

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Deletions of the 3q26.33q27.2 region appear to correlate with a distinct phenotype, although there are few reported cases. Here, we present seven previously unreported individuals carrying de novo 3q27 deletions (under 5 Mb), which include the AP2M1 (adaptor‐related protein complex 2, mu‐1 subunit) gene and summarize data from 12 previously ...
Russell Gear   +16 more
wiley   +1 more source

Why is Dental Public Health residency program needed in Pakistan?

open access: yesAnnals of Abbasi Shaheed Hospital and Karachi Medical & Dental College, 2023
Community dentistry or dental public health residency program are non-existent in Pakistan. Due to this, the dental institutions find it extremely difficult to hire and retain teachers in this discipline.
Farhan Raza Khan
doaj  

In Search of Dental Care: Two Types of Dentist Shortages Limit Children's Access to Care [PDF]

open access: yes, 2013
Each year in the United States, tens of millions of children, disproportionately low-income, go without seeing a dentist.This lack of access to dental care is a complex problem fueled by a number of factors, with two different dentist shortages ...

core  

An International ASXL3 Natural History Study: Deep Phenotypic Analyses Including Detailed Reports of a Milder Phenotype, Novel Associations, and Clinical Recommendations

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Natural History Studies can help inform clinician and caregiver expectations, form the basis of management guidelines, and provide a comparator for therapeutic intervention. In rare conditions, where collection of prospective longitudinal data is untimely and impractical, quasi‐natural history data—from multiple individuals of different ages ...
E. Woods   +16 more
wiley   +1 more source

Special Libraries, March 1946 [PDF]

open access: yes, 1946
Volume 37, Issue 3https://scholarworks.sjsu.edu/sla_sl_1946/1002/thumbnail ...
Special Libraries Association
core   +1 more source

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