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Scientific Reports
|
October 9, 2023
Novel GPR156 variants confirm its role in moderate sensorineural hearing loss
Memoona Ramzan, Nazim Bozan, Serhat Seyhan, et al.
Journal of Immunology (Baltimore, Md. : 1950)
|
September 12, 2012
Mannan-binding lectin-associated serine protease (MASP)-1 is crucial for lectin pathway activation in human serum, whereas neither MASP-1 nor MASP-3 is required for alternative pathway function
Søren E Degn, Lisbeth Jensen, Annette G Hansen, et al.
Fertility and Sterility
|
June 21, 2011
Inherited mutation of the luteinizing hormone/choriogonadotropin receptor (LHCGR) in empty follicle syndrome
Kemal O Yariz, Tom Walsh, Asli Uzak, et al.
Turk Pediatri Arsivi
|
October 25, 2017
Research of genetic bases of hereditary non-syndromic hearing loss
Aslı Subaşıoğlu, Duygu Duman, Aslı Sırmacı, et al.
Genetic Testing and Molecular Biomarkers
|
July 26, 2014
Identification of copy number variants through whole-exome sequencing in autosomal recessive nonsyndromic hearing loss
Guney Bademci, Oscar Diaz-Horta, Shengru Guo, et al.
Clinical Genetics
|
August 22, 2019
Novel variant p.E269K confirms causative role of PLS1 mutations in autosomal dominant hearing loss
Oscar Diaz-Horta, Guney Bademci, Suna Tokgoz-Yilmaz, et al.
Pediatric Nephrology (Berlin, Germany)
|
July 2, 2013
High frequency of kidney and urinary tract anomalies in asymptomatic first-degree relatives of patients with CAKUT
Burcu Bulum, Z Birsin Ozçakar, Evren Ustüner, et al.
Human Genetics
|
June 9, 2019
A truncating CLDN9 variant is associated with autosomal recessive nonsyndromic hearing loss
Claire J Sineni, Muzeyyen Yildirim-Baylan, Shengru Guo, et al.
American Journal of Human Genetics
|
November 2, 2010
MASP1 mutations in patients with facial, umbilical, coccygeal, and auditory findings of Carnevale, Malpuech, OSA, and Michels syndromes
Asli Sirmaci, Tom Walsh, Hatice Akay, et al.
Molecular Syndromology
|
June 3, 2026
Two Siblings with <i>LRPPRC</i> Mutation: Mitochondrial Complex IV Deficiency: Case Report
Merve Setenay Akyüzlüer Güneş, Duygu Duman, Emine Kübra Şen, et al.
Page
of 6
Search research articles
Search
Showing results (11-20 of 51) with videos related to
Sort By:
Page
of 6
Scientific Reports
|
October 9, 2023
Novel GPR156 variants confirm its role in moderate sensorineural hearing loss
Memoona Ramzan, Nazim Bozan, Serhat Seyhan, et al.
Journal of Immunology (Baltimore, Md. : 1950)
|
September 12, 2012
Mannan-binding lectin-associated serine protease (MASP)-1 is crucial for lectin pathway activation in human serum, whereas neither MASP-1 nor MASP-3 is required for alternative pathway function
Søren E Degn, Lisbeth Jensen, Annette G Hansen, et al.
Fertility and Sterility
|
June 21, 2011
Inherited mutation of the luteinizing hormone/choriogonadotropin receptor (LHCGR) in empty follicle syndrome
Kemal O Yariz, Tom Walsh, Asli Uzak, et al.
Turk Pediatri Arsivi
|
October 25, 2017
Research of genetic bases of hereditary non-syndromic hearing loss
Aslı Subaşıoğlu, Duygu Duman, Aslı Sırmacı, et al.
Genetic Testing and Molecular Biomarkers
|
July 26, 2014
Identification of copy number variants through whole-exome sequencing in autosomal recessive nonsyndromic hearing loss
Guney Bademci, Oscar Diaz-Horta, Shengru Guo, et al.
Clinical Genetics
|
August 22, 2019
Novel variant p.E269K confirms causative role of PLS1 mutations in autosomal dominant hearing loss
Oscar Diaz-Horta, Guney Bademci, Suna Tokgoz-Yilmaz, et al.
Pediatric Nephrology (Berlin, Germany)
|
July 2, 2013
High frequency of kidney and urinary tract anomalies in asymptomatic first-degree relatives of patients with CAKUT
Burcu Bulum, Z Birsin Ozçakar, Evren Ustüner, et al.
Human Genetics
|
June 9, 2019
A truncating CLDN9 variant is associated with autosomal recessive nonsyndromic hearing loss
Claire J Sineni, Muzeyyen Yildirim-Baylan, Shengru Guo, et al.
American Journal of Human Genetics
|
November 2, 2010
MASP1 mutations in patients with facial, umbilical, coccygeal, and auditory findings of Carnevale, Malpuech, OSA, and Michels syndromes
Asli Sirmaci, Tom Walsh, Hatice Akay, et al.
Molecular Syndromology
|
June 3, 2026
Two Siblings with <i>LRPPRC</i> Mutation: Mitochondrial Complex IV Deficiency: Case Report
Merve Setenay Akyüzlüer Güneş, Duygu Duman, Emine Kübra Şen, et al.
Page
of 6