Search research articles
Contact Us
Filters
Showing results (1-10 of 47) with videos related to
Page
of 5
Sort By:
American Journal of Medical Genetics. Part A
|
April 8, 2015
Novel homozygous mutation in KPTN gene causing a familial intellectual disability-macrocephaly syndrome
Sander Pajusalu, Tiia Reimand, Katrin Õunap
American Journal of Medical Genetics. Part A
|
November 4, 2004
Two sisters with Silver-Russell phenotype
Katrin Ounap, Tiia Reimand, Marja-Liis Mägi, et al.
Molecular Syndromology
|
August 31, 2018
Two Consecutive Pregnancies with Simpson-Golabi-Behmel Syndrome Type 1: Case Report and Review of Published Prenatal Cases
Konstantin Ridnõi, Elvira Kurvinen, Sander Pajusalu, et al.
Clinical Case Reports
|
August 16, 2016
An 8.4-Mb 3q26.33-3q28 microdeletion in a patient with blepharophimosis-intellectual disability syndrome and a review of the literature
Katrin Õunap, Sander Pajusalu, Olga Zilina, et al.
European Journal of Medical Genetics
|
February 2, 2013
Patient with dup(5)(q35.2-q35.3) reciprocal to the common Sotos syndrome deletion and review of the literature
Olga Žilina, Tiia Reimand, Pille Tammur, et al.
Community Genetics
|
July 13, 2004
Parents' satisfaction with medical and social assistance provided to children with Down syndrome: experience in Estonia
Tiia Reimand, Oivi Uibo, Riina Zordania, et al.
American Journal of Medical Genetics. Part A
|
November 14, 2008
Incontinentia pigmenti in a female conceived by in vitro fertilization
Kadri Haller-Kikkatalo, Maire Peters, Kai Kisand, et al.
Clinical and Translational Science
|
March 14, 2020
Inter- and Intrafamilial Phenotypic Variability in Individuals with Collagen-Related Osteogenesis Imperfecta
Lidiia Zhytnik, Katre Maasalu, Tiia Reimand, et al.
European Journal of Pediatrics
|
September 22, 2009
LEOPARD syndrome with recurrent PTPN11 mutation Y279C and different cutaneous manifestations: two case reports and a review of the literature
Ingrid Kalev, Kai Muru, Rita Teek, et al.
Fetal and Pediatric Pathology
|
August 17, 2025
<i>ACTG2</i>-Related Visceral Myopathy: Case Reports with Phenotypic Variations and Review of the Previously Published Cases
Eva-Liina Süüden, Eliisa Appelberg, Mari-Anne Vals, et al.
Page
of 5
Search research articles
Search
Showing results (1-10 of 47) with videos related to
Sort By:
Page
of 5
American Journal of Medical Genetics. Part A
|
April 8, 2015
Novel homozygous mutation in KPTN gene causing a familial intellectual disability-macrocephaly syndrome
Sander Pajusalu, Tiia Reimand, Katrin Õunap
American Journal of Medical Genetics. Part A
|
November 4, 2004
Two sisters with Silver-Russell phenotype
Katrin Ounap, Tiia Reimand, Marja-Liis Mägi, et al.
Molecular Syndromology
|
August 31, 2018
Two Consecutive Pregnancies with Simpson-Golabi-Behmel Syndrome Type 1: Case Report and Review of Published Prenatal Cases
Konstantin Ridnõi, Elvira Kurvinen, Sander Pajusalu, et al.
Clinical Case Reports
|
August 16, 2016
An 8.4-Mb 3q26.33-3q28 microdeletion in a patient with blepharophimosis-intellectual disability syndrome and a review of the literature
Katrin Õunap, Sander Pajusalu, Olga Zilina, et al.
European Journal of Medical Genetics
|
February 2, 2013
Patient with dup(5)(q35.2-q35.3) reciprocal to the common Sotos syndrome deletion and review of the literature
Olga Žilina, Tiia Reimand, Pille Tammur, et al.
Community Genetics
|
July 13, 2004
Parents' satisfaction with medical and social assistance provided to children with Down syndrome: experience in Estonia
Tiia Reimand, Oivi Uibo, Riina Zordania, et al.
American Journal of Medical Genetics. Part A
|
November 14, 2008
Incontinentia pigmenti in a female conceived by in vitro fertilization
Kadri Haller-Kikkatalo, Maire Peters, Kai Kisand, et al.
Clinical and Translational Science
|
March 14, 2020
Inter- and Intrafamilial Phenotypic Variability in Individuals with Collagen-Related Osteogenesis Imperfecta
Lidiia Zhytnik, Katre Maasalu, Tiia Reimand, et al.
European Journal of Pediatrics
|
September 22, 2009
LEOPARD syndrome with recurrent PTPN11 mutation Y279C and different cutaneous manifestations: two case reports and a review of the literature
Ingrid Kalev, Kai Muru, Rita Teek, et al.
Fetal and Pediatric Pathology
|
August 17, 2025
<i>ACTG2</i>-Related Visceral Myopathy: Case Reports with Phenotypic Variations and Review of the Previously Published Cases
Eva-Liina Süüden, Eliisa Appelberg, Mari-Anne Vals, et al.
Page
of 5