Results 171 to 180 of about 1,723,944 (304)

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

Evaluation of Type 2 Diabetes Mellitus Chronic Disease Management Policy to Improve Self-Care Management

open access: diamond
Amira Bin Seh Abubakar   +4 more
openalex   +2 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

DIABETES MELLITUS. [PDF]

open access: yesJAMA: The Journal of the American Medical Association, 1899
openaire   +1 more source

Queen Margrette II of Denmark has visited Endocrinology Research Center

open access: yesСахарный диабет, 2011
Editorial team Diabetes Mellitus
doaj   +1 more source

The Voice of Cantú: Lower Voice Pitch Is a New Phenotypic Feature of Cantú Syndrome

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cantú syndrome (CS) is a rare genetic condition caused by pathogenic variants in either ABCC9 or KCNJ8, leading to gain‐of‐function of KATP‐channels. The main clinical features are hypertrichosis and cardiovascular abnormalities. This study investigates the voice characteristics in individuals with CS, an aspect that has received little ...
Lotte Kleinendorst   +4 more
wiley   +1 more source

Impact of Diabetes Mellitus in TB Patients on TB Transmission. [PDF]

open access: yesClin Infect Dis
Huang CC   +12 more
europepmc   +1 more source

Alexandr S. Ametov. On the ocassion of his 70th birthday

open access: yesСахарный диабет, 2011
Editorial team Diabetes Mellitus
doaj   +1 more source

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