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Clinical Genetics
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March 8, 2017
SNORD116 deletions cause Prader-Willi syndrome with a mild phenotype and macrocephaly
P Fontana, M Grasso, F Acquaviva, et al.
American Journal of Medical Genetics
|
September 1, 1994
Six additional cases of the KBG syndrome: clinical reports and outline of the diagnostic criteria
M Zollino, A Battaglia, M G D'Avanzo, et al.
La Pediatria Medica E Chirurgica : Medical and Surgical Pediatrics
|
July 1, 1981
[Aarskog's syndrome (facial-digital-genital syndrome). Study of a family (author's transl)]
G Scarano, M M Rinaldi, M L Cavaliere, et al.
Scandinavian Journal of Rheumatology
|
May 10, 2008
Interleukin (IL)-6 and receptor activator of nuclear factor (NF)-kappaB ligand (RANKL) are increased in the serum of a patient with primary pachydermoperiostosis
D Rendina, G De Filippo, R Viceconti, et al.
La Pediatria Medica E Chirurgica : Medical and Surgical Pediatrics
|
September 1, 1982
[Severe mental retardation and slight dysmorphism in a child with a bisatellite extrachromosome: inversion duplication (15)?]
M M Rinaldi, R Militerni, A Pascotto, et al.
Journal of Biological Regulators and Homeostatic Agents
|
May 21, 2020
Allergooncology: an expanding research area
L Della Valle, A Gatta, A Farinelli, et al.
Journal of Medical Genetics
|
October 11, 2011
Histone acetylation deficits in lymphoblastoid cell lines from patients with Rubinstein-Taybi syndrome
J P Lopez-Atalaya, C Gervasini, F Mottadelli, et al.
Clinical Genetics
|
January 1, 1995
Dicentric chromosome Y associated with Leydig cell agenesis and sex reversal
M Genuardi, B Bardoni, G Floridia, et al.
European Journal of Human Genetics : EJHG
|
June 3, 1999
Mosaic trisomy 17 in amniocytes: phenotypic outcome, tissue distribution, and uniparental disomy studies
M Genuardi, C Tozzi, M G Pomponi, et al.
Minerva Pediatrica
|
May 31, 1983
[Partial trisomy 10q24 leads to 10qter due to familial translocation (9;10) (p24;q24) recurring in 3 generations]
M Stabile, G Scarano, A Rinaldi, et al.
Page
of 7
Search research articles
Search
Showing results (41-50 of 63) with videos related to
Sort By:
Page
of 7
Clinical Genetics
|
March 8, 2017
SNORD116 deletions cause Prader-Willi syndrome with a mild phenotype and macrocephaly
P Fontana, M Grasso, F Acquaviva, et al.
American Journal of Medical Genetics
|
September 1, 1994
Six additional cases of the KBG syndrome: clinical reports and outline of the diagnostic criteria
M Zollino, A Battaglia, M G D'Avanzo, et al.
La Pediatria Medica E Chirurgica : Medical and Surgical Pediatrics
|
July 1, 1981
[Aarskog's syndrome (facial-digital-genital syndrome). Study of a family (author's transl)]
G Scarano, M M Rinaldi, M L Cavaliere, et al.
Scandinavian Journal of Rheumatology
|
May 10, 2008
Interleukin (IL)-6 and receptor activator of nuclear factor (NF)-kappaB ligand (RANKL) are increased in the serum of a patient with primary pachydermoperiostosis
D Rendina, G De Filippo, R Viceconti, et al.
La Pediatria Medica E Chirurgica : Medical and Surgical Pediatrics
|
September 1, 1982
[Severe mental retardation and slight dysmorphism in a child with a bisatellite extrachromosome: inversion duplication (15)?]
M M Rinaldi, R Militerni, A Pascotto, et al.
Journal of Biological Regulators and Homeostatic Agents
|
May 21, 2020
Allergooncology: an expanding research area
L Della Valle, A Gatta, A Farinelli, et al.
Journal of Medical Genetics
|
October 11, 2011
Histone acetylation deficits in lymphoblastoid cell lines from patients with Rubinstein-Taybi syndrome
J P Lopez-Atalaya, C Gervasini, F Mottadelli, et al.
Clinical Genetics
|
January 1, 1995
Dicentric chromosome Y associated with Leydig cell agenesis and sex reversal
M Genuardi, B Bardoni, G Floridia, et al.
European Journal of Human Genetics : EJHG
|
June 3, 1999
Mosaic trisomy 17 in amniocytes: phenotypic outcome, tissue distribution, and uniparental disomy studies
M Genuardi, C Tozzi, M G Pomponi, et al.
Minerva Pediatrica
|
May 31, 1983
[Partial trisomy 10q24 leads to 10qter due to familial translocation (9;10) (p24;q24) recurring in 3 generations]
M Stabile, G Scarano, A Rinaldi, et al.
Page
of 7