Results 91 to 100 of about 9,325 (177)

Diagnostyka prenatalna wyzwaniem moralnym

Fides et Ratio, 2017
The main goal of this article is to share the topic of the development of prenatal diagnosis. The rejection of an objective moral law is a big challenge for the moral theology.
Marcelina Szymczyk
doaj  

Effects of Helicobacter pylori Infection on Ghrelin and Insulin-like Growth Factor 1 Secretion in Children with Idiopathic Short Stature. [PDF]

J Clin Med, 2022
Kolasa-Kicińska M, Stawerska R, Stawerski P, Kałużyński A, Czkwianianc E, Lewiński A.   +5 more
europepmc   +1 more source

Novel Biallelic <i>INTS1</i> Variants May Expand the Phenotypic Spectrum of <i>INTS1</i>-Related Disorders-Case Report and Literature Review. [PDF]

Genes (Basel)
Wnuk-Kłosińska A, Sowińska-Seidler A, Piechota M, Jamsheer A.   +3 more
europepmc   +1 more source

Dyslipidemia Assessed in Pediatric Patients: Validation of LDL-C Assessed by Friedewald Formula, Direct Assessment, and Sampson-NIH Formula. [PDF]

Diagnostics (Basel)
Wawer J, Chojęta A, Swadźba J, Janiszewska M, Chojęta M, Wawer GA, Grywalska E, Milaniuk A.   +7 more
europepmc   +1 more source

Intrafamilial Phenotypic Variability of the <i>FGFR1</i> p.Cys277Tyr Variant: A Case Report and Review of the Literature. [PDF]

Genes (Basel)
Szoszkiewicz A, Sowińska-Seidler A, Gruca-Stryjak K, Jamsheer A.   +3 more
europepmc   +1 more source

Spinocerebellar ataxia 27B (SCA27B)-a systematic review and a case report of a Polish family. [PDF]

J Appl Genet
Hirschfeld AS, Misiorek JO, Dabrowska M, Muszynski J, Gerhart BJ, Zenczak M, Rakoczy M, Rolle K, Switonski PM, Napierala JS, Handschuh L, Napierala M, Badura-Stronka M.   +12 more
europepmc   +1 more source

Upstream SOX9 deletion in a 46,XY girl with acampomelic campomelic dysplasia and absent minipuberty. [PDF]

Orphanet J Rare Dis
Szoszkiewicz A, Bukowska-Olech E, Kurzawa P, Sowińska-Seidler A, Niedziela M, Kolesińska Z, Jamsheer A.   +6 more
europepmc   +1 more source

Facial Appearance and Markers of Cardiometabolic Risk in Healthy Adult Men. [PDF]

Arch Sex Behav
Czernicka W, Żelaźniewicz A, Nowak-Kornicka J, Pawłowski B.   +3 more
europepmc   +1 more source

PATHOGENICITY OF LACTOBACILLUS SP. – RISK FACTORS, IDENTIFICATION, ANTIBIOTIC RESISTANCE [PDF]

Postępy Mikrobiologii, 2017
Marta Kłos
doaj   +1 more source

Cardiofaciocutaneous syndrome and immunodeficiency: data from an international multicenter cohort. [PDF]

Front Immunol
Di Majo BE, Leoni C, Cartisano E, Fossati C, Viscogliosi G, Trevisan V, Bruno LP, Conti F, Moratti M, Monaco E, Rigante D, Rivalta B, Cancrini C, Szczawińska-Popłonyk A, Jamsheer A, Obara-Moszyńska M, Zakharova V, Shcherbina A, Rodina J, Tüysüz B, Jamuar SS, Lim JY, Goh J, Cereda A, Agovino T, Contaldo I, Gambardella ML, Balduzzi AC, Cherubino A, Marrocco GA, Bellesi S, Carusi V, Rumi G, Biondi A, Zampino G, Saettini F.   +35 more
europepmc   +1 more source