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Clinical Genetics
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October 7, 1998
Spinal and bulbar muscular atrophy (SBMA): somatic stability of an expanded CAG repeat in fetal tissues
K B Jedele, D Wahl, S Chahrokh-Zadeh, et al.
Journal of Medical Genetics
|
August 1, 1997
Phenotypic expression of the fibroblast growth factor receptor 3 (FGFR3) mutation P250R in a large craniosynostosis family
A Golla, P Lichmer, S von Gernet, et al.
American Journal of Medical Genetics
|
October 2, 1996
Interstitial deletion 5p accompanied by dicentric ring formation of the deleted segment resulting in trisomy 5p13-cen
S Schuffenhauer, A Kobelt, C Daumer-Haas, et al.
Geburtshilfe Und Frauenheilkunde
|
July 1, 1980
[Prenatal diagnosis in parents with a balanced structural chromosome aberration (author's transl)]
A Wirtz, S Stengel-Rutkowski, J Stene, et al.
American Journal of Medical Genetics
|
May 3, 1996
Craniosynostosis suggestive of Saethre-Chotzen syndrome: clinical description of a large kindred and exclusion of candidate regions on 7p
S von Gernet, S Schuffenhauer, A Golla, et al.
American Journal of Medical Genetics
|
August 17, 1999
Nonsyndromic X-linked mental retardation: mapping of MRX58 to the pericentromeric region
E Holinski-Feder, S Chahrockh-Zadeh, O Rittinger, et al.
European Journal of Human Genetics : EJHG
|
November 5, 1998
UHX1 and PCTK1: precise characterisation and localisation within a gene-rich region in Xp11.23 and evaluation as candidate genes for retinal diseases mapped to Xp21.1-p11.2
O Brandau, G Nyakatura, K B Jedele, et al.
Immunodeficiency
|
January 1, 1995
A PCR based X-chromosome inactivation assay for carrier detection in X-linked immunodeficiencies using differential methylation of the androgen receptor gene
B Schmucker, A Meindl, H Achatz, et al.
American Journal of Human Genetics
|
October 1, 1990
Definitive localization of X-linked Kallman syndrome (hypogonadotropic hypogonadism and anosmia) to Xp22.3: close linkage to the hypervariable repeat sequence CRI-S232
T Meitinger, B Heye, C Petit, et al.
American Journal of Human Genetics
|
July 27, 1999
Multiplex-FISH for pre- and postnatal diagnostic applications
S Uhrig, S Schuffenhauer, C Fauth, et al.
Page
of 4
Search research articles
Search
Showing results (21-30 of 33) with videos related to
Sort By:
Page
of 4
Clinical Genetics
|
October 7, 1998
Spinal and bulbar muscular atrophy (SBMA): somatic stability of an expanded CAG repeat in fetal tissues
K B Jedele, D Wahl, S Chahrokh-Zadeh, et al.
Journal of Medical Genetics
|
August 1, 1997
Phenotypic expression of the fibroblast growth factor receptor 3 (FGFR3) mutation P250R in a large craniosynostosis family
A Golla, P Lichmer, S von Gernet, et al.
American Journal of Medical Genetics
|
October 2, 1996
Interstitial deletion 5p accompanied by dicentric ring formation of the deleted segment resulting in trisomy 5p13-cen
S Schuffenhauer, A Kobelt, C Daumer-Haas, et al.
Geburtshilfe Und Frauenheilkunde
|
July 1, 1980
[Prenatal diagnosis in parents with a balanced structural chromosome aberration (author's transl)]
A Wirtz, S Stengel-Rutkowski, J Stene, et al.
American Journal of Medical Genetics
|
May 3, 1996
Craniosynostosis suggestive of Saethre-Chotzen syndrome: clinical description of a large kindred and exclusion of candidate regions on 7p
S von Gernet, S Schuffenhauer, A Golla, et al.
American Journal of Medical Genetics
|
August 17, 1999
Nonsyndromic X-linked mental retardation: mapping of MRX58 to the pericentromeric region
E Holinski-Feder, S Chahrockh-Zadeh, O Rittinger, et al.
European Journal of Human Genetics : EJHG
|
November 5, 1998
UHX1 and PCTK1: precise characterisation and localisation within a gene-rich region in Xp11.23 and evaluation as candidate genes for retinal diseases mapped to Xp21.1-p11.2
O Brandau, G Nyakatura, K B Jedele, et al.
Immunodeficiency
|
January 1, 1995
A PCR based X-chromosome inactivation assay for carrier detection in X-linked immunodeficiencies using differential methylation of the androgen receptor gene
B Schmucker, A Meindl, H Achatz, et al.
American Journal of Human Genetics
|
October 1, 1990
Definitive localization of X-linked Kallman syndrome (hypogonadotropic hypogonadism and anosmia) to Xp22.3: close linkage to the hypervariable repeat sequence CRI-S232
T Meitinger, B Heye, C Petit, et al.
American Journal of Human Genetics
|
July 27, 1999
Multiplex-FISH for pre- and postnatal diagnostic applications
S Uhrig, S Schuffenhauer, C Fauth, et al.
Page
of 4