Results 111 to 120 of about 1,610 (176)

Perinatal outcomes in 35 children with cartilage hair hypoplasia. [PDF]

Orphanet J Rare Dis
Kasanen E, Toiviainen-Salo S, Vakkilainen S, Kainulainen L, Tanner L, Makitie O.   +5 more
europepmc   +1 more source

Comprehensive analysis of disease spectrum and mortality in Sanjad-Sakati syndrome: an international rare disease registry study.

J Clin Endocrinol Metab
Almutair A, Karas K, Al Subaihin A, Al Dibasi O, Melha M, Al-Ghamdi H, Yadav B, Al Ghanam S, Alanazi A, AlSaedi A, Althobaiti E, Al Senani A, Al Azkawi H, Al Enezi A, Bakkar A, Ali A, Al Juraibah F, Alyaarubi S, Al Sagheir A, Högler W.   +19 more
europepmc   +1 more source

Emerging concepts in osteoarthritis and musculoskeletal diseases: Insights from the University of Debrecen Musculoskeletal Symposium 2025. [PDF]

Osteoarthr Cartil Open
Kovács P, Vágó J, Mobasheri A, Jenei-Lanzl Z, Zaucke F, Madry H, Csernoch L, Szekanecz Z, Szondy Z, Szöőr Á, Szatmari I, Oláh T, Matta C.   +12 more
europepmc   +1 more source

Severe Suprasystemic Refractory Pulmonary Hypertension in a Neonate with Stüve-Wiedemann Syndrome Associated with Biallelic LIFR Variants: Molecular Insights and a Neonatal Case Report. [PDF]

Int J Mol Sci
Chojnacka K, Sibrecht G, Gruca-Stryjak K, Szczapa T.   +3 more
europepmc   +1 more source

A novel EVC2 splice-site variant expands the mutational and phenotypic spectrum of Weyers acrofacial dysostosis. [PDF]

BMC Med Genomics
Chen A, Zhang W, Long P, Chen X, Zhang A, Zhu H, Zeng L, Xiong F, Wang J, Zhu S, Zhou P.   +10 more
europepmc   +1 more source

Beyond Body Condition Score: A Proposed Interspecies Framework for Tissue-by-Tissue Nutritional Assessment in Veterinary Practice. [PDF]

Vet Sci
Cappai MG.
europepmc   +1 more source

ICD-10-based screening increased detection of hospitalisations potentially eligible for paediatric palliative care consultation in the emergency department: a validation study. [PDF]

BMC Palliat Care
de Mello V, de Almeida Campos MS, de Araújo Neves N, Oliveira TZ, Rodrigues JPV, Volpon LC, Frangiotti MAC, Zanetti MOB, Pereira LRL, Varallo FR.   +9 more
europepmc   +1 more source

The Broad Clinical Spectrum of Metatropic Dysplasia: A Case Series and Literature Review. [PDF]

Int J Mol Sci
Robles-Espinoza K, Esparza-García E, González García JR, Magaña-Torres MT.   +3 more
europepmc   +1 more source

Elevated MMP9 Expression-A Potential In Vitro Biomarker for COMPopathies. [PDF]

Int J Mol Sci
Dietmar HF, Dennis EP, Johnson de Sousa Brito FM, Reynard LN, Young DA, Briggs MD.   +5 more
europepmc   +1 more source

Phenotype Variations in a Family with Various Rearrangements in the Locus of the <i>SHOX</i> Gene. [PDF]

Int J Mol Sci
Beskorovainaya TS, Markova TV, Polyakov AV, Shchagina OA, Kenis VM.   +4 more
europepmc   +1 more source