Results 161 to 170 of about 143,001 (214)

The population-based prevalence of achondroplasia and thanatophoric dysplasia in selected regions of the US. [PDF]

Am J Med Genet A, 2008
Waller DK, Correa A, Vo TM, Wang Y, Hobbs C, Langlois PH, Pearson K, Romitti PA, Shaw GM, Hecht JT.   +9 more
europepmc   +1 more source

The Broad Clinical Spectrum of Metatropic Dysplasia: A Case Series and Literature Review. [PDF]

Int J Mol Sci
Robles-Espinoza K, Esparza-García E, González García JR, Magaña-Torres MT.   +3 more
europepmc   +1 more source

Genetic analysis of fetal skeletal dysplasia via whole exome sequencing and non-invasive prenatal diagnosis. [PDF]

Ann Med
Wang L, Zhang Y, Zheng F, Dong H, Zhu X, Jia C, Zhang B.   +6 more
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

Prenatal diagnosis of FGFR3 mutations in thanatophoric dysplasia types I and II

, 1999
Elaine Spector, A. Hansen-Higa, Gary A. Bellus   +2 more
openalex   +1 more source

Thanatophoric dysplasia.

Indian pediatrics, 1995
M L, Kulkarni, C, Sureshkumar, V, Venkataramana, S, Koshy, M, Bhagyavathi, G S, Reddy   +5 more
openaire   +1 more source

Thanatophoric dysplasia : Antenatal diagnosis

, 2004
R. B. Dubey, Y Sachdev, S Adhav
openalex   +1 more source

The Value of Enhancing Sonographic Phenotyping to Improve the Diagnostic Yield of Noninvasive Prenatal Diagnosis (NIPD) for Achondroplasia. [PDF]

Prenat Diagn
Verebi C, Gravrand V, Guerini C, Anselem O, Vaucouleur N, Boimard LO, Ben Ouazzou R, Demirtas C, Leturcq F, Bienvenu T, Tsatsaris V, Pannier E, Nectoux J.   +12 more
europepmc   +1 more source

First Trimester Ultrasound Soft Markers in a Fetus: Genetic Associations and Diagnostic Implications. [PDF]

Matern Fetal Med
Mangla M, Kumar N.
europepmc   +1 more source

Clinical Characterization of Michelin Tire Baby Syndrome: A Case Report Highlighting Severe Short Stature. [PDF]

Cureus
Iwai K, Okawada M.
europepmc   +1 more source