Results 211 to 220 of about 926,540 (312)

Primary isolated thoracic vertebral hydatid disease with multicompartment extension: A case report. [PDF]

Radiol Case Rep
Ouiam T, Bennani H, Retal H, Kettani NE, Fikri M, Touarsa F.   +5 more
europepmc   +1 more source

A THORACIC SUPPORT

Journal of Thoracic Surgery, 1946
openaire   +2 more sources

A Rare Form of Microcephalic Primordial Dwarfism due to NSMCE2 Deficiency (Seckel Syndrome Type 10): A Report of Macular Involvement

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic variants in NSMCE2 (MMS21), which encodes the SUMO E3 ligase subunit of the SMC5/6 chromatin‐maintenance complex, have recently been implicated in microcephalic primordial dwarfism (MPD), corresponding to Seckel syndrome type 10 (OMIM #617246).
Cristina Peduto, Céline Huber, Clément Paya, Isabelle Audo, Nathalie Boddaert, Valérie Cormier‐Daire   +5 more
wiley   +1 more source

Region-specific QCT thresholds for osteoporosis assessment in the thoracic spine: why lumbar cut-offs fail. [PDF]

BMC Musculoskelet Disord
Klockner FS, Jäckle K, Malik HA, Roch J, Meier MP, Lehmann W, Weiser L.   +6 more
europepmc   +1 more source

Longitudinal Echocardiographic Surveillance of Aortic Dilation in a Phenotype‐Enriched Turner Syndrome Cohort

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Turner syndrome (TS) is associated with thoracic aortopathy and increased risk for aortic dissection, yet the natural history of aortic dilation is not well understood. We performed a retrospective longitudinal study of individuals with TS who participated in the TS Society of the United States Healthy Heart Project between 2003 and 2023 ...
Dylan Doerner, Matthew R. Johnson, Sara Mansoorshahi, Rakesh Kathiresan, Katelyn Abel, Jonathan G. You, Emilio Quezada, Siddharth K. Prakash   +7 more
wiley   +1 more source

Longitudinal Anesthetic and Critical Care Management After Emergency Thoracic Endovascular Aortic Repair for Blunt Thoracic Aortic Injury in an Adolescent: A Case Report. [PDF]

Cureus
Cuzzone V, De Stefano C, Manna G, Cama G, Paglia A.   +4 more
europepmc   +1 more source

TTC21B: From Modifier to Causative Gene in Joubert Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic pathogenic variants in TTC21B, encoding the retrograde intraflagellar transport protein IFT139, are a known cause of renal and skeletal ciliopathies. Single heterozygous variants in this gene were found to be enriched in a cohort of patients with various ciliopathy phenotypes, including three individuals with Joubert syndrome (JS), a
Valentina Serpieri, Fulvio D'Abrusco, Anna Pichiecchio, Thouraya Ben Younes, Ichraf Kraoua, Enza Maria Valente   +5 more
wiley   +1 more source