Results 231 to 240 of about 84,871 (291)

Prenatal diagnosis of distal Xq28 duplication syndrome: case reports and literature review. [PDF]

Mol Cytogenet
Zhang Y, Yue F, Liu R.
europepmc   +1 more source

Phenotypic Spectrum in Three Romanian Patients with 8q23-q24 Deletions. [PDF]

Int J Mol Sci
Caramizaru A, Streata I, Pirvu A, Sosoi S, Dumitrescu A, Cucu M, Camen GC, Vasile D, Braha E, Riza AL, Dobrescu A, Burada F.   +11 more
europepmc   +1 more source

A Retrospective Study of High‐Risk Infants: Insights From a Regional Hospital in Victoria, Australia

Journal of Paediatrics and Child Health, EarlyView.
ABSTRACT Aim To determine the magnitude of high‐risk infants cared for at a regional hospital in Victoria, Australia and to identify the resources required to care for them. Methods A retrospective study was conducted between January 2017 and December 2019 in a regional hospital in Victoria, Australia.
Romanie Rodrigo, Reji Thomas, Jennifer You, Shizar Nahidi, Sheikh Arif Maqbool Kozgar   +4 more
wiley   +1 more source

Erratum: Novel mutation in ABBC9 gene associated with congenital hypertrichosis and acromegaloid facial features, without cardiac or skeletal anomalies: a new phenotype [Corrigendum]. [PDF]

Appl Clin Genet, 2018
europepmc   +1 more source

Hydrogels in Periodontal and Craniofacial Regeneration: Current Applications and Next‐Generation Biomaterials

Journal of Periodontal Research, EarlyView.
Hydrogel‐based therapies have proven to be valuable tools to address the unique regeneration challenges of complex multi‐domain periodontal and craniofacial tissues. This review highlights and classifies clinically approved and emerging hydrogel therapies indicated for the regeneration of periodontal and craniofacial tissues.
Z. Gouveia, M. Diba, B. T. Yilmaz, Jae‐Kook Cha, D. T. Wu, D. J. Mooney   +5 more
wiley   +1 more source

Lamb-Shaffer syndrome in a Chinese adolescent: A case report. [PDF]

Medicine (Baltimore)
Xu J, Song X, Zeng L, Zou C.
europepmc   +1 more source

Diagnostic performance of chromosomal microarray and whole exome sequencing in fetal structural anomalies: a single-center retrospective study. [PDF]

BMC Pregnancy Childbirth
Özer L, Aktuna S, Ünsal E.
europepmc   +1 more source

A Rare Case of Prenatal Short-Rib Thoracic Dysplasia 11 Subtype With Compound Heterozygous Variants in the <i>DYNC2I2</i> Gene: Presenting Polydactyly and Shortened Limbs. [PDF]

Clin Case Rep
Wang Z, Guan H, Li X, Liao J, Pan Y, Dong X, Hong X.   +6 more
europepmc   +1 more source

Recurrent Constellations of Embryonic Malformations (RCEM): Teratogenicity Linked to Transient Hypoxia and Hormone Pregnancy Tests Agrees With RCEM and Suggest a Reactive Oxygen Species Pathogenesis. [PDF]

Birth Defects Res
Adam AP, Ritchie HE, Adam MP, Danielsson BR.   +3 more
europepmc   +1 more source

Association between dental anomalies and skeletal malocclusions in different facial patterns in a Saudi subpopulation. [PDF]

BMC Oral Health
Alshammari AK, Algharbi MA, Alshammary FL, Almotairy NS, Alshammari HD, Rashdi MM, Alrahin SH, Alsalem FH, Madfa AA.   +8 more
europepmc   +1 more source