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11
Phalangeal cone-shaped epiphyses of the hand: their natural history, diagnostic sensitivity, and specificity in cartilage hair hypoplasia and the trichorhinophalangeal syndromes I and II
Phalangeal cone-shaped epiphyses of the hand: their natural history, diagnostic sensitivity, and specificity in cartilage hair hypoplasia and the trichorhinophalangeal syndromes I and II
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Phalangeal cone-shaped epiphyses of the hand: their natural history, diagnostic sensitivity, and specificity in cartilage hair hypoplasia and the trichorhinophalangeal syndromes I and II

Giedion, A

Pediatric radiology, 1998-10, Vol.28 (10), p.751-758 [Periódico revisado por pares]

Germany: Springer Nature B.V

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12
Spondyloenchondrodysplasia with spasticity, cerebral calcifications, and immune dysregulation: Clinical and radiographic delineation of a pleiotropic disorder
Spondyloenchondrodysplasia with spasticity, cerebral calcifications, and immune dysregulation: Clinical and radiographic delineation of a pleiotropic disorder
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Spondyloenchondrodysplasia with spasticity, cerebral calcifications, and immune dysregulation: Clinical and radiographic delineation of a pleiotropic disorder

Renella, Raffaele ; Schaefer, Elke ; LeMerrer, Martine ; Alanay, Yasemin ; Kandemir, Nurgun ; Eich, Georg ; Costa, Teresa ; Ballhausen, Diana ; Boltshauser, Eugen ; Bonafé, Luisa ; Giedion, Andres ; Unger, Sheila ; Superti-Furga, Andrea

American journal of medical genetics. Part A, 2006-03, Vol.140A (6), p.541-550 [Periódico revisado por pares]

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

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13
Equitable financing, out-of-pocket payments and the role of health care reform in Colombia
Equitable financing, out-of-pocket payments and the role of health care reform in Colombia
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Equitable financing, out-of-pocket payments and the role of health care reform in Colombia

Castano, Ramon A ; Arbelaez, Jose J ; Giedion, Ursula B ; Morales, Luis G

Health policy and planning, 2002-12, Vol.17 (suppl-1), p.5-11 [Periódico revisado por pares]

England: Oxford University Press

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14
Acrodysostosis and craniofacial conodysplasia are two separate bone dysplasias
Acrodysostosis and craniofacial conodysplasia are two separate bone dysplasias
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Acrodysostosis and craniofacial conodysplasia are two separate bone dysplasias

Giedion, Andres

Pediatric radiology, 2002-03, Vol.32 (3), p.214-214 [Periódico revisado por pares]

Germany

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15
RMRP gene sequence analysis confirms a cartilage-hair hypoplasia variant with only skeletal manifestations and reveals a high density of single-nucleotide polymorphisms
RMRP gene sequence analysis confirms a cartilage-hair hypoplasia variant with only skeletal manifestations and reveals a high density of single-nucleotide polymorphisms
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RMRP gene sequence analysis confirms a cartilage-hair hypoplasia variant with only skeletal manifestations and reveals a high density of single-nucleotide polymorphisms

Bonafé, L ; Schmitt, K ; Eich, G ; Giedion, A ; Superti-Furga, A

Clinical genetics, 2002-02, Vol.61 (2), p.146-151 [Periódico revisado por pares]

Oxford, UK: Blackwell Science, Ltd

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16
MMP13 mutations are the cause of recessive metaphyseal dysplasia, Spahr type
MMP13 mutations are the cause of recessive metaphyseal dysplasia, Spahr type
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MMP13 mutations are the cause of recessive metaphyseal dysplasia, Spahr type

Bonafé, Luisa ; Liang, Jinlong ; Gorna, Maria W. ; Zhang, Qingyan ; Ha-Vinh, Russia ; Campos-Xavier, Ana Belinda ; Unger, Sheila ; Beckmann, Jacques S. ; Le Béchec, Antony ; Stevenson, Brian ; Giedion, Andres ; Liu, Xuanzhu ; Superti-Furga, Giulio ; Wang, Wei ; Spahr, André ; Superti-Furga, Andrea

American journal of medical genetics. Part A, 2014-05, Vol.164A (5), p.1175-1179 [Periódico revisado por pares]

United States: Blackwell Publishing Ltd

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17
A recurrent R718W mutation in COMP results in multiple epiphyseal dysplasia with mild myopathy: clinical and pathogenetic overlap with collagen IX mutations
A recurrent R718W mutation in COMP results in multiple epiphyseal dysplasia with mild myopathy: clinical and pathogenetic overlap with collagen IX mutations
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A recurrent R718W mutation in COMP results in multiple epiphyseal dysplasia with mild myopathy: clinical and pathogenetic overlap with collagen IX mutations

Jakkula, E ; Lohiniva, J ; Capone, A ; Bonafe, L ; Marti, M ; Schuster, V ; Giedion, A ; Eich, G ; Boltshauser, E ; Ala-Kokko, L ; Superti-Furga, A

Journal of medical genetics, 2003-12, Vol.40 (12), p.942-948 [Periódico revisado por pares]

England: BMJ Publishing Group Ltd

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18
Pronounced short stature in a girl with tricho‐rhino‐phalangeal syndrome II (TRPS II, Langer–Giedion syndrome) and growth hormone deficiency
Pronounced short stature in a girl with tricho‐rhino‐phalangeal syndrome II (TRPS II, Langer–Giedion syndrome) and growth hormone deficiency
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Pronounced short stature in a girl with tricho‐rhino‐phalangeal syndrome II (TRPS II, Langer–Giedion syndrome) and growth hormone deficiency

Riedl, S. ; Giedion, A. ; Schweitzer, K. ; Müllner‐Eidenböck, A. ; Grill, F. ; Frisch, H. ; Lüdecke, H.‐J.

American journal of medical genetics. Part A, 2004-12, Vol.131A (2), p.200-203 [Periódico revisado por pares]

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

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19
Acrocapitofemoral dysplasia: an autosomal recessive skeletal dysplasia with cone shaped epiphyses in the hands and hips
Acrocapitofemoral dysplasia: an autosomal recessive skeletal dysplasia with cone shaped epiphyses in the hands and hips
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Acrocapitofemoral dysplasia: an autosomal recessive skeletal dysplasia with cone shaped epiphyses in the hands and hips

Mortier, G R ; Kramer, P P G ; Giedion, A ; Beemer, F A

Journal of medical genetics, 2003-03, Vol.40 (3), p.201-207 [Periódico revisado por pares]

England: BMJ Publishing Group Ltd

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20
Heterogeneity in Schwartz-Jampel chondrodystrophic myotonia
Heterogeneity in Schwartz-Jampel chondrodystrophic myotonia
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Heterogeneity in Schwartz-Jampel chondrodystrophic myotonia

Giedion, A

Pediatric radiology, 1997-05, Vol.27 (5), p.454-454 [Periódico revisado por pares]

Germany: Springer Nature B.V

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