Results 101 to 110 of about 4,412 (188)

ST-Elevation Myocardial Infarction (STEMI) in a Morphologically Pediatric Adult With Seckel Syndrome: A Report of a Rare Case. [PDF]

Cureus
Qasem AG, Al-Nahhas OF, Albeshr MA, Al Shouha T.   +3 more
europepmc   +1 more source

Pituitary Stalk Interruption Syndrome: A Case Series. [PDF]

Cureus
Prusty B, Sahoo D, Das S, Meher D, Agarwal V, Sahu SK, Choudhury A, Das B.   +7 more
europepmc   +1 more source

Cartilage-hair hypoplasia in a patient with compound heterozygous variants in the RMRP gene: A case report. [PDF]

Medicine (Baltimore)
Lin S, Chen Q, Qi Y, Sun X, Wang W, Jiang K, Zhou X.   +6 more
europepmc   +1 more source

A nonsense mutation in the PRKG2 gene in dalmatian dogs with chondrodysplasia. [PDF]

PLoS One
Mäkeläinen S, Ekman S, Hytönen MK, Lohi H, Kyöstilä K, Simon T, Andersson G, Hedhammar Å, Hansson K, Bergström TF.   +9 more
europepmc   +1 more source

Saul Wilson Syndrome: A Case Report With New Features in Saudi Arabia. [PDF]

Clin Case Rep
Bin Owaimer SA, Abusrair FH, Mutlaq MR, Faqeih EA, Abu-Safieh L.   +4 more
europepmc   +1 more source

Autopsy Findings in a Case of Pituitary Dwarfism [PDF]

Archives of Disease in Childhood, 1958
openaire   +2 more sources

Growth Hormone Therapy Restores Fertility in a Woman With Isolated Growth Hormone Deficiency From Chronic Sheehan Syndrome. [PDF]

JCEM Case Rep
Park YA, Talmor A, Upreti R.
europepmc   +1 more source

X-Linked Hypophosphatemia in a Family Cohort: Clinical Variability, Genetic Confirmation and Modern Therapeutic Perspectives. [PDF]

J Clin Med
Popa O, Balaș M, Golu I, Amzăr D, Dorogi C, Vlad M.   +5 more
europepmc   +1 more source

Phenotypic spectrum of RNU4ATAC-related spliceosomopathies: four novel cases and integrated reevaluation of previously reported patients. [PDF]

Orphanet J Rare Dis
Lovric S, Berking AC, Ringshausen FC, Körholz J, Porrmann J, Hütter S, Bräsen JH, di Donato N, Schmidt-Ott KM, Witte T, von Hardenberg S, Sogkas G.   +11 more
europepmc   +1 more source

Pituitary dwarfism [PDF]

, 1941
Scott, Nathaniel N
core   +1 more source