Results 81 to 90 of about 12,084,964 (131)

Clinical utility of trio whole exome sequencing in fetuses with ultrasound anomalies. [PDF]

Hum Genomics
Zeng Z, Zhang L, Zhou Y, Zhang X, Yi H, Li H, Liu Y, Li J, Chen Q, Chen Y, Yu G, Yi J, Zhang Y, Zhang H, Dong Y.   +14 more
europepmc   +1 more source

Case Report: Proportionate short stature in a three-generation family harboring <i>FGFR3</i> N540S: phenotypic expansion beyond hypochondroplasia and implications for genetic screening in idiopathic short stature. [PDF]

Front Endocrinol (Lausanne)
Zhang B, Wang X, Luo J, Gong C.
europepmc   +1 more source

A Sporadic Case of COL1A1 Osteogenesis Imperfecta: From Prenatal Diagnosis to Outcomes in Infancy-Case Report and Literature Review. [PDF]

Genes (Basel), 2023
Vankevičienė K, Matulevičienė A, Mazgelytė E, Paliulytė V, Vankevičienė R, Ramašauskaitė D.   +5 more
europepmc   +1 more source

Enhancing Prenatal Genetic Evaluation Through the Combination of Single-Gene Non-Invasive Prenatal Screening and Prenatal Imaging. [PDF]

Prenat Diagn
Araji S, Cohen JL.
europepmc   +1 more source

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

Thanatophoric Dysplasia With Concurrent Hydroureteronephrosis: A Rare Case Report From Rural Southern India. [PDF]

Cureus
V P, Gambhir P, V S.
europepmc   +1 more source

Application of family whole-exome sequencing for prenatal diagnosis-an analysis of 357 cases. [PDF]

Front Med (Lausanne)
Ge Y, Yuan H, Yu Y, Xiao J, Liu D, Peng Y, Liu Y, Huang S, Yang B, Zou Y, Liu Y.   +10 more
europepmc   +1 more source

Acromelic dysplasias: similarities and differences in clinical and molecular findings in 12 Turkish patients. [PDF]

Eur J Pediatr
Güneş N, Türk S, Onur H, Gür K, Yüksel Elgin C, Çifçi Sunamak E, Uludağ Alkaya D, Eroğlu AG, Tüysüz B.   +8 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

<i>FBN1</i> TB5 domain variants in acromelic dysplasia: multisystem manifestations, genotype-phenotype correlations, and partial responses to growth hormone therapy. [PDF]

Front Endocrinol (Lausanne)
Zhang J, Huang MT, Wang B, Lin YY, Zheng RJ, Xiao HM, Ma HM, Guo S, Chen QL, Li YH.   +9 more
europepmc   +1 more source