Results 131 to 140 of about 66,813 (153)

What Resources Are Available for Parents Online? A Readability, Quality, and Source Evaluation of Website and AI-Generated Content on Inherited Pediatric Orthopaedic Conditions. [PDF]

J Pediatr Soc North Am
Hayes DS, Blank EH, Muchow RD.
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

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

Genome sequencing in a cohort of 32 fetuses with genetic skeletal disorders. [PDF]

Eur J Hum Genet
Lindelöf H, Hammarsjö A, Voss U, Gaetana Piticchio S, Conner P, Papadogiannakis N, Batkovskyte D, Orellana L, Kvarnung M, Malmgren H, Lagerstedt Robinson K, Nordgren A, Lindstrand A, Nishimura G, Grigelioniene G.   +14 more
europepmc   +1 more source

Domain-wide Mapping of Peer-reviewed Literature for Genetic Developmental Disorders using Machine Learning and Gene2Phenotype

Yates TM, Hunt SE, Lemos D, Pericherla SR, Uhalte EC, Ansari M, Thompson L, Doneva SE, Wright CF, Firth HV, Simpson TI.   +10 more
europepmc   +1 more source

High-output cardiac failure in a fetus with thanatophoric dysplasia associated with large placental chorioangioma: Case report

Journal of Clinical Ultrasound, 2012
Placental chorioangioma is an angioma arising from chorionic tissue. Fetal thanatophoric dysplasia is a lethal skeletal dysplasia due to mutation of fibroblast growth factor receptor 3 gene.
Fuat Akercan, Burak Zeybek
exaly   +2 more sources

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Thanatophoric dysplasia: An autosomal dominant condition?

American Journal of Medical Genetics, Part A, 1988
M L Martinez-Frías, J Salvador
exaly  

Thanatophoric dysplasia and cloverleaf skull

American Journal of Medical Genetics, Part A, 1987
Leonard O Langer, S Samuel Yang
exaly  

Antenatal sonographic diagnosis of thanatophoric dysplasia: a report of three cases and a review of the literature with special emphasis on the differential diagnosis

Ultrasound in Obstetrics and Gynecology, 1996
R L Schild
exaly