A 100-year-old anatomical specimen presenting with boomerang-like skeletal dysplasia: Diagnostic strategies and outcome

American Journal of Medical Genetics ◽

10.1002/(sici)1096-8628(19990716)85:2<134::aid-ajmg7>3.0.co;2-c ◽

1999 ◽

Vol 85 (2) ◽

pp. 134-139 ◽

Author(s):

Roelof-Jan Oostra ◽

Piet F. Dijkstra ◽

Bob Baljet ◽

Ben W.J.M. Verbeeten ◽

Raoul C.M. Hennekam

Keyword(s):

Skeletal Dysplasia ◽

Diagnostic Strategies ◽

Anatomical Specimen

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The three diagnostic strategies -- Which is the best?

PsycEXTRA Dataset ◽

10.1037/e523472012-200 ◽

2011 ◽

Author(s):

Anna Slysz

Keyword(s):

Diagnostic Strategies

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Skeletal dysplasia in Saul Wilson syndrome

Bone Abstracts ◽

10.1530/boneabs.7.p194 ◽

2019 ◽

Author(s):

Merete Ljungberg ◽

Hove Hanne Buciek

Keyword(s):

Skeletal Dysplasia

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Microdeletion of 12p11.22-p11.21 resulting in a skeletal dysplasia characterized by significant metaphyseal abnormalities and osteolysis

Bone Abstracts ◽

10.1530/boneabs.6.p109 ◽

2017 ◽

Author(s):

Jennifer Harrington ◽

Andrew Howard ◽

Malte Spielmann ◽

Peter Kannu

Keyword(s):

Skeletal Dysplasia

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Skeletal dysplasia

Bone Abstracts ◽

10.1530/boneabs.6.is09biog ◽

2017 ◽

Author(s):

Melita Irving

Keyword(s):

Skeletal Dysplasia

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Skeletal dysplasia with short stature and a Larsen-like phenotype due to a homozygous mutation in B3GAT3

Bone Abstracts ◽

10.1530/boneabs.4.p45 ◽

2015 ◽

Author(s):

Elisabeth Steichen-Gersdorf ◽

Franco Laccone

Keyword(s):

Short Stature ◽

Skeletal Dysplasia ◽

Homozygous Mutation

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TR[alpha] mutation causes a severe and thyroxine-resistant skeletal dysplasia

Endocrine Abstracts ◽

10.1530/endoabs.34.oc4.3 ◽

2014 ◽

Author(s):

J H Duncan Bassett ◽

Alan Boyde ◽

Tomas Zikmund ◽

Holly Evans ◽

Peter I Croucher ◽

...

Keyword(s):

Skeletal Dysplasia

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Microdeletion of 12p11.22-p11.21 resulting in a skeletal dysplasia characterized by significant metaphyseal abnormalities and osteolysis

10.26226/morressier.59020064d462b80292385d54 ◽

2017 ◽

Author(s):

Jennifer Harrington

Keyword(s):

Skeletal Dysplasia

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Trial Comparing 2 Diagnostic Strategies for Preoperative Localization of Parathyroid Adenoma in Primary Hyperparathyroidism:TEMP / CT With Tc99m-sestaMIBI or PET / CT With F18-choline in First Intention

Case Medical Research ◽

10.31525/ct1-nct04040946 ◽

2019 ◽

Author(s):

Keyword(s):

Parathyroid Adenoma ◽

Preoperative Localization ◽

Diagnostic Strategies ◽

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Faculty Opinions recommendation of Lethal skeletal dysplasia in mice and humans lacking the golgin GMAP-210.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.1855956.5177061 ◽

2010 ◽

Author(s):

Lee Weinstein

Keyword(s):

Skeletal Dysplasia ◽

Lethal Skeletal Dysplasia

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Faculty Opinions recommendation of Endemic mycoses: epidemiology and diagnostic strategies.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.738267507.793576894 ◽

2020 ◽

Author(s):

Roberto Arenas ◽

Eder Rodrigo Juarez-Duran

Keyword(s):

Diagnostic Strategies ◽

Endemic Mycoses

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