Results 91 to 100 of about 40,078 (160)

Genetic Disorders Detectable by Fetal MRI: A Review. [PDF]

Diagnostics (Basel)
Wong KC, Chow TH, Cheung C, Chan JPK, Lee JCY, Kan EYL, Chu WCW.   +6 more
europepmc   +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

Adult presentation of Simpson-Golabi-Behmel syndrome due to a hemizygous <i>GPC3</i> stopgain variant mimicking acromegaly. [PDF]

JCEM Case Rep
Rishabh RK, Gadde S, Acharya H, Bhat V, Delampady K, Hk G.   +5 more
europepmc   +1 more source

Inherited variants in autosomal dominant disease genes are a significant cause of fetal structural anomalies. [PDF]

J Med Genet
Graham SA, McCabe A, Harrison V, Castleman J, Doyle S, Allen S.   +5 more
europepmc   +1 more source

De Novo RRAS2 Pathogenic Variant in a Fetus With Bilateral Radial Ray and Multisystem Anomalies. [PDF]

Prenat Diagn
Legro NR, Haizler-Cohen L, Genthe W, Greenberg V.   +3 more
europepmc   +1 more source

Neonatal Presentation of 49,XXXXY (Fraccaro) Syndrome with Ventriculomegaly: Expanding the Early Neuroimaging Phenotype. [PDF]

Pediatr Rep
Vardar G, Girgin G, Kabakoglu Unsur E, Seymen G.   +3 more
europepmc   +1 more source

Hypodontia in the Korean orthodontic population: Prevalence and characteristics of a nationwide multicenter study. [PDF]

Korean J Orthod
Kim SH, Kim YI, Kim SS, Park SB, Choi DS, Kim HJ, Kim KA, Lee MH, Choi SH, Choi SK, Lee KC, Jeon YM, Jeong S, Choi YK.   +13 more
europepmc   +1 more source

Knuckle, Knuckle, Dimple, Dimple: Do Not Miss A Diagnostic Opportunity. [PDF]

Clin Case Rep
Pellegrin MC, Tamaro G, Fachin A, Barbi E, Tornese G.   +4 more
europepmc   +1 more source

Fetal pathology meets clinical genetics – on the value of a comprehensive postmortem examination. [PDF]

Med Genet
Fauth C, Sprung S, BSc MM, BSc RL, Mutz-Dehbalaie I, Döttelmayer P, Freund-Unsinn K.   +6 more
europepmc   +1 more source