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American Journal of Medical Genetics. Part A
|
October 16, 2007
Long-term follow-up and analysis of monozygotic twins concordant for 45,X/46,XY peripheral blood karyotype but discordant for phenotypic sex
Sandra P Tho, Robert Jackson, Anita S Kulharya, et al.
Molecular Cytogenetics
|
March 22, 2016
Comparative deletion mapping at 1p31.3-p32.2 implies NFIA responsible for intellectual disability coupled with macrocephaly and the presence of several other genes for syndromic intellectual disability
Jonathan D J Labonne, Yiping Shen, Il-Keun Kong, et al.
Human Genetics
|
February 3, 2026
Mosaic variants in the LIM homeobox 1 (LHX1) gene contribute to Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome
Dina Kira, Soumia Brakta, Hyung Goo Kim, et al.
Clinical Neuropathology
|
May 1, 2014
Spectrum of genes involved in a unique case of Potocki Schaffer syndrome with a large chromosome 11 deletion
Bernd F M Romeike, Yiping Shen, Hiromi Koso Nishimoto, et al.
Fertility and Sterility
|
October 11, 2005
The prevalence of gonadotropin-releasing hormone receptor mutations in a large cohort of patients with hypogonadotropic hypogonadism
Balasubramanian Bhagavath, Metin Ozata, I C Ozdemir, et al.
Molecular Human Reproduction
|
January 11, 2007
KAL1 mutations are not a common cause of idiopathic hypogonadotrophic hypogonadism in humans
Balasubramanian Bhagavath, Ning Xu, Metin Ozata, et al.
Diabetes & Vascular Disease Research
|
May 30, 2026
Sex differences in cardiovascular disease risk in type 1 diabetes: The vascular bed paradox in women
Abigayle B Simon, Dhruti Trivedi, Marsha Blackburn, et al.
American Journal of Medical Genetics. Part A
|
July 22, 2014
The historical Coffin-Lowry syndrome family revisited: identification of two novel mutations of RPS6KA3 in three male patients
Hiromi Koso Nishimoto, Kyungsoo Ha, Julie R Jones, et al.
Fertility and Sterility
|
March 8, 2013
Identification of HESX1 mutations in Kallmann syndrome
Kayce Newbern, Nithya Natrajan, Hyung-Goo Kim, et al.
The Journal of Clinical Endocrinology and Metabolism
|
September 23, 2014
The expression of the miR-25/93/106b family of micro-RNAs in the adipose tissue of women with polycystic ovary syndrome
Hsiao-Li Wu, Saleh Heneidi, Tung-Yueh Chuang, et al.
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Search research articles
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Showing results (41-50 of 104) with videos related to
Sort By:
Page
of 11
American Journal of Medical Genetics. Part A
|
October 16, 2007
Long-term follow-up and analysis of monozygotic twins concordant for 45,X/46,XY peripheral blood karyotype but discordant for phenotypic sex
Sandra P Tho, Robert Jackson, Anita S Kulharya, et al.
Molecular Cytogenetics
|
March 22, 2016
Comparative deletion mapping at 1p31.3-p32.2 implies NFIA responsible for intellectual disability coupled with macrocephaly and the presence of several other genes for syndromic intellectual disability
Jonathan D J Labonne, Yiping Shen, Il-Keun Kong, et al.
Human Genetics
|
February 3, 2026
Mosaic variants in the LIM homeobox 1 (LHX1) gene contribute to Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome
Dina Kira, Soumia Brakta, Hyung Goo Kim, et al.
Clinical Neuropathology
|
May 1, 2014
Spectrum of genes involved in a unique case of Potocki Schaffer syndrome with a large chromosome 11 deletion
Bernd F M Romeike, Yiping Shen, Hiromi Koso Nishimoto, et al.
Fertility and Sterility
|
October 11, 2005
The prevalence of gonadotropin-releasing hormone receptor mutations in a large cohort of patients with hypogonadotropic hypogonadism
Balasubramanian Bhagavath, Metin Ozata, I C Ozdemir, et al.
Molecular Human Reproduction
|
January 11, 2007
KAL1 mutations are not a common cause of idiopathic hypogonadotrophic hypogonadism in humans
Balasubramanian Bhagavath, Ning Xu, Metin Ozata, et al.
Diabetes & Vascular Disease Research
|
May 30, 2026
Sex differences in cardiovascular disease risk in type 1 diabetes: The vascular bed paradox in women
Abigayle B Simon, Dhruti Trivedi, Marsha Blackburn, et al.
American Journal of Medical Genetics. Part A
|
July 22, 2014
The historical Coffin-Lowry syndrome family revisited: identification of two novel mutations of RPS6KA3 in three male patients
Hiromi Koso Nishimoto, Kyungsoo Ha, Julie R Jones, et al.
Fertility and Sterility
|
March 8, 2013
Identification of HESX1 mutations in Kallmann syndrome
Kayce Newbern, Nithya Natrajan, Hyung-Goo Kim, et al.
The Journal of Clinical Endocrinology and Metabolism
|
September 23, 2014
The expression of the miR-25/93/106b family of micro-RNAs in the adipose tissue of women with polycystic ovary syndrome
Hsiao-Li Wu, Saleh Heneidi, Tung-Yueh Chuang, et al.
Page
of 11