Results 171 to 180 of about 1,285,364 (360)

Nance‐Horan Syndrome: Further Delineation of the Affected Male and the Female Carrier Phenotypes

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Nance‐Horan syndrome (NHS; OMIM 302350) is a rare, X‐linked syndrome characterized by bilateral congenital cataracts leading to profound vision loss, specific dental anomalies including characteristic screwdriver blade‐shaped incisors, facial anomalies, and intellectual disability.
Maria K. Haanpää   +14 more
wiley   +1 more source

“Got to build that trust”: Aboriginal Health Workers’ perspectives and experiences of maternal oral health

open access: gold, 2020
Ariana Kong   +9 more
openalex   +1 more source

The constraints to good child care practices in Accra [PDF]

open access: yes
Life in urban areas presents special challenges for maternal child care practices. Data from a representative survey of households with children less than 3 years of age in Accra were used to test a number of hypothesized constraints to child care ...
Armar-Klemesu, Margaret   +4 more
core  

Descriptive Epidemiology From the Myhre Syndrome Foundation Registry: The Value of Self‐Reported Data

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing loss. The natural history of Myhre syndrome is still not fully understood due to a small patient population ...
Mary K. Young   +6 more
wiley   +1 more source

Maternal Health Considerations: Highlighting and advancing opportunities for improved maternal health

open access: yesWomen's Health
The special collection on Maternal Health Considerations offers a comprehensive exploration of critical issues surrounding maternal well-being across diverse contexts and disciplines. Recognising that maternal health extends beyond the physiological realm, this collection delves into the multifaceted dimensions of maternal well-being, including ...
openaire   +4 more sources

Respiratory Involvement in HIST1H1E‐Related Rahman Syndrome: A Case of Severe Mixed Apnea

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Rahman syndrome (HIST1H1E‐related neurodevelopmental syndrome, OMIM #617537) is a rare autosomal‐dominant condition caused by truncating variants in the C‐terminal domain of the HIST1H1E gene. It is characterized by macrocephaly, hypotonia, craniofacial anomalies, and multisystem anomalies.
Nada Barakat   +4 more
wiley   +1 more source

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