Results 151 to 160 of about 18,812 (235)

Case Report: Prenatal clues and postnatal evolution: a case of williams syndrome diagnosed following progressive cardiovascular phenotypes. [PDF]

Front Pediatr
Zeng Y, Huang Y, Zeng S, Yang W, Li Q, Liu J, Huang D, Wang H.   +7 more
europepmc   +1 more source

Microdeletion Syndromes: Characteristics and Diagnosis

, 2003
Stuart, Schwartz, Michael D, Graf
openaire   +2 more sources

Genotype-phenotypic correlation in a Chinese patient with isolated lissencephaly sequence caused by 17p13.3p13.2 chromosomal microdeletion: a 6-year follow-up study. [PDF]

Front Genet
Tong J, Chen X, Wang T, Ma S, Zhao Y, Shi D, Wang X, Yan D.   +7 more
europepmc   +1 more source

Xp21 microdeletion syndrome [PDF]

, 2020
openaire   +1 more source

Isolated Left Innominate Artery with a Right Arch and Bilateral Patent Arterial Ducts in a Patient with 22q11 Microdeletion: Report of a Rare Case. [PDF]

J Cardiovasc Thorac Res
Bou Hussein H, Salameh R, Zareef R, El Rassi I, Bitar F, Bulbul Z.   +5 more
europepmc   +1 more source

7q31 microdeletion syndrome [PDF]

, 2020
openaire   +1 more source

Clinical Spectrum and Early Renal Functional Variability in a Nationwide Greek Pediatric HNF1B Multicenter Cohort. [PDF]

J Clin Med
Dotis J, Zampetoglou A, Askiti V, Bitsori M, Siomou E, Kosmeri C, Printza N, Kondou A, Ververi A, Kapogiannis C, Kapogiannis A, Tramma D, Kollios K, Fourikou M, Hellenic Society Of Pediatric Nephrology Hspn.   +14 more
europepmc   +1 more source