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World Journal of Gastroenterology
|
March 23, 2006
Screening for celiac disease in Down's syndrome patients revealed cases of subtotal villous atrophy without typical for celiac disease HLA-DQ and tissue transglutaminase antibodies
Oivi Uibo, Kaupo Teesalu, Kaja Metskula, et al.
European Journal of Medical Genetics
|
May 4, 2019
PEHO syndrome caused by compound heterozygote variants in ZNHIT3 gene
Katrin Õunap, Kai Muru, Eve Õiglane-Shlik, et al.
Molecular Syndromology
|
January 7, 2016
The Diagnostic Utility of Single Long Contiguous Stretches of Homozygosity in Patients without Parental Consanguinity
Sander Pajusalu, Olga Žilina, Maria Yakoreva, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
March 21, 2019
Patients with down syndrome have increased prevalence of rheumatoid factor but not autoantibodies to anti-cyclic citrullinated peptide
Erik Orro, Kristi Alnek, Tiia Reimand, et al.
Journal of Assisted Reproduction and Genetics
|
November 10, 2018
Chromosomal scan of single sperm cells by combining fluorescence-activated cell sorting and next-generation sequencing
Quoc Ty Tran, Tatjana Jatsenko, Olev Poolamets, et al.
Human Reproduction Update
|
July 30, 2021
From late fatherhood to prenatal screening of monogenic disorders: evidence and ethical concerns
Lidiia Zhytnik, Maire Peters, Kadi Tilk, et al.
International Journal of Pediatric Otorhinolaryngology
|
August 17, 2010
Prevalence of c.35delG and p.M34T mutations in the GJB2 gene in Estonia
Rita Teek, Katrin Kruustük, Riina Zordania, et al.
Molecular Genetics & Genomic Medicine
|
April 2, 2014
Chromosomal microarray analysis as a first-tier clinical diagnostic test: Estonian experience
Olga Zilina, Rita Teek, Pille Tammur, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
February 18, 2014
Monosomy 1p36 - a multifaceted and still enigmatic syndrome: four clinically diverse cases with shared white matter abnormalities
Eve Õiglane-Shlik, Sanna Puusepp, Inga Talvik, et al.
Molecular Genetics & Genomic Medicine
|
September 6, 2021
A two-year prospective study assessing the performance of fetal chromosomal microarray analysis and next-generation sequencing in high-risk pregnancies
Konstantin Ridnõi, Kai Muru, Maria Keernik, et al.
Page
of 5
Search research articles
Search
Showing results (21-30 of 47) with videos related to
Sort By:
Page
of 5
World Journal of Gastroenterology
|
March 23, 2006
Screening for celiac disease in Down's syndrome patients revealed cases of subtotal villous atrophy without typical for celiac disease HLA-DQ and tissue transglutaminase antibodies
Oivi Uibo, Kaupo Teesalu, Kaja Metskula, et al.
European Journal of Medical Genetics
|
May 4, 2019
PEHO syndrome caused by compound heterozygote variants in ZNHIT3 gene
Katrin Õunap, Kai Muru, Eve Õiglane-Shlik, et al.
Molecular Syndromology
|
January 7, 2016
The Diagnostic Utility of Single Long Contiguous Stretches of Homozygosity in Patients without Parental Consanguinity
Sander Pajusalu, Olga Žilina, Maria Yakoreva, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
March 21, 2019
Patients with down syndrome have increased prevalence of rheumatoid factor but not autoantibodies to anti-cyclic citrullinated peptide
Erik Orro, Kristi Alnek, Tiia Reimand, et al.
Journal of Assisted Reproduction and Genetics
|
November 10, 2018
Chromosomal scan of single sperm cells by combining fluorescence-activated cell sorting and next-generation sequencing
Quoc Ty Tran, Tatjana Jatsenko, Olev Poolamets, et al.
Human Reproduction Update
|
July 30, 2021
From late fatherhood to prenatal screening of monogenic disorders: evidence and ethical concerns
Lidiia Zhytnik, Maire Peters, Kadi Tilk, et al.
International Journal of Pediatric Otorhinolaryngology
|
August 17, 2010
Prevalence of c.35delG and p.M34T mutations in the GJB2 gene in Estonia
Rita Teek, Katrin Kruustük, Riina Zordania, et al.
Molecular Genetics & Genomic Medicine
|
April 2, 2014
Chromosomal microarray analysis as a first-tier clinical diagnostic test: Estonian experience
Olga Zilina, Rita Teek, Pille Tammur, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
February 18, 2014
Monosomy 1p36 - a multifaceted and still enigmatic syndrome: four clinically diverse cases with shared white matter abnormalities
Eve Õiglane-Shlik, Sanna Puusepp, Inga Talvik, et al.
Molecular Genetics & Genomic Medicine
|
September 6, 2021
A two-year prospective study assessing the performance of fetal chromosomal microarray analysis and next-generation sequencing in high-risk pregnancies
Konstantin Ridnõi, Kai Muru, Maria Keernik, et al.
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of 5