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Helvetica Paediatrica Acta
|
September 1, 1982
Oto-spondylo-megaepiphyseal dysplasia (OSMED)
A Giedion, M Brandner, J Lecannellier, et al.
American Journal of Medical Genetics
|
January 1, 1980
Cerebroarthrodigital syndrome: a newly recognized formal genesis syndrome in three patients with apparent arthromyodysplasia and sacral agenesis, brain malformation and digital hypoplasia
J W Spranger, A Schinzel, T Myers, et al.
Schweizerische Medizinische Wochenschrift
|
September 23, 1989
[Long-term course in congenital analgesia]
M Losa, H Scheier, P Rohner, et al.
The Journal of Pediatrics
|
September 1, 1986
Kenny syndrome: evidence for idiopathic hypoparathyroidism in two patients and for abnormal parathyroid hormone in one
S Fanconi, J A Fischer, P Wieland, et al.
Clinical Genetics
|
May 1, 1976
Spondyloepiphyseal dysplasia, corneal clouding, normal intelligence and acid beta-galactosidase deficiency
J S O'Brien, E Gugler, A Giedion, et al.
American Journal of Medical Genetics
|
July 23, 1998
Schwartz-Jampel syndrome type 2 and Stüve-Wiedemann syndrome: a case for "lumping"
A Superti-Furga, R Tenconi, M Clementi, et al.
American Journal of Medical Genetics. Part A
|
November 4, 2004
Pronounced short stature in a girl with tricho-rhino-phalangeal syndrome II (TRPS II, Langer-Giedion syndrome) and growth hormone deficiency
S Riedl, A Giedion, K Schweitzer, et al.
Journal of Medical Genetics
|
January 1, 1991
Unknown syndrome: ischiadic hypoplasia, renal dysfunction, immunodeficiency, and a pattern of minor congenital anomalies
C Braegger, A Bottani, F Hallé, et al.
European Journal of Pediatrics
|
March 1, 1995
A glycine 375-to-cysteine substitution in the transmembrane domain of the fibroblast growth factor receptor-3 in a newborn with achondroplasia
A Superti-Furga, G Eich, H U Bucher, et al.
American Journal of Medical Genetics
|
November 7, 1998
Heterozygous glycine substitution in the COL11A2 gene in the original patient with the Weissenbacher-Zweymüller syndrome demonstrates its identity with heterozygous OSMED (nonocular Stickler syndrome)
T Pihlajamaa, D J Prockop, J Faber, et al.
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of 4
Search research articles
Search
Showing results (21-30 of 33) with videos related to
Sort By:
Page
of 4
Helvetica Paediatrica Acta
|
September 1, 1982
Oto-spondylo-megaepiphyseal dysplasia (OSMED)
A Giedion, M Brandner, J Lecannellier, et al.
American Journal of Medical Genetics
|
January 1, 1980
Cerebroarthrodigital syndrome: a newly recognized formal genesis syndrome in three patients with apparent arthromyodysplasia and sacral agenesis, brain malformation and digital hypoplasia
J W Spranger, A Schinzel, T Myers, et al.
Schweizerische Medizinische Wochenschrift
|
September 23, 1989
[Long-term course in congenital analgesia]
M Losa, H Scheier, P Rohner, et al.
The Journal of Pediatrics
|
September 1, 1986
Kenny syndrome: evidence for idiopathic hypoparathyroidism in two patients and for abnormal parathyroid hormone in one
S Fanconi, J A Fischer, P Wieland, et al.
Clinical Genetics
|
May 1, 1976
Spondyloepiphyseal dysplasia, corneal clouding, normal intelligence and acid beta-galactosidase deficiency
J S O'Brien, E Gugler, A Giedion, et al.
American Journal of Medical Genetics
|
July 23, 1998
Schwartz-Jampel syndrome type 2 and Stüve-Wiedemann syndrome: a case for "lumping"
A Superti-Furga, R Tenconi, M Clementi, et al.
American Journal of Medical Genetics. Part A
|
November 4, 2004
Pronounced short stature in a girl with tricho-rhino-phalangeal syndrome II (TRPS II, Langer-Giedion syndrome) and growth hormone deficiency
S Riedl, A Giedion, K Schweitzer, et al.
Journal of Medical Genetics
|
January 1, 1991
Unknown syndrome: ischiadic hypoplasia, renal dysfunction, immunodeficiency, and a pattern of minor congenital anomalies
C Braegger, A Bottani, F Hallé, et al.
European Journal of Pediatrics
|
March 1, 1995
A glycine 375-to-cysteine substitution in the transmembrane domain of the fibroblast growth factor receptor-3 in a newborn with achondroplasia
A Superti-Furga, G Eich, H U Bucher, et al.
American Journal of Medical Genetics
|
November 7, 1998
Heterozygous glycine substitution in the COL11A2 gene in the original patient with the Weissenbacher-Zweymüller syndrome demonstrates its identity with heterozygous OSMED (nonocular Stickler syndrome)
T Pihlajamaa, D J Prockop, J Faber, et al.
Page
of 4