Results 171 to 180 of about 1,723,944 (304)
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
Australasian periprocedural guideline for children and adolescents with diabetes mellitus. [PDF]
Jennings N +3 more
europepmc +1 more source
Respiratory Involvement in HIST1H1E‐Related Rahman Syndrome: A Case of Severe Mixed Apnea
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
Queen Margrette II of Denmark has visited Endocrinology Research Center
Editorial team Diabetes Mellitus
doaj +1 more source
The Voice of Cantú: Lower Voice Pitch Is a New Phenotypic Feature of Cantú Syndrome
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]
Huang CC +12 more
europepmc +1 more source
Alexandr S. Ametov. On the ocassion of his 70th birthday
Editorial team Diabetes Mellitus
doaj +1 more source

