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Prenatal Diagnosis
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May 9, 2023
Fetal hydrops caused by a novel pathogenic MECOM variant
Elizabeth Wall, Joan Forsyth, Esther Kinning, et al.
Prenatal Diagnosis
|
May 11, 2023
Maternally inherited autosomal dominant PLAG-1 related Silver Russell syndrome in a fetus with intra-uterine growth restriction
Wing Ting Tse, Charlotte Bass, Leo Gurney, et al.
Expert Review of Endocrinology & Metabolism
|
February 21, 2019
A multidisciplinary approach to understanding skeletal dysplasias
Esther Kinning, Helen McDevitt, Rod Duncan, et al.
JCEM Case Reports
|
June 7, 2024
Gonadal Failure in a Male With 3-M Syndrome
Irena Aldhoon-Hainerova, Elizabeth Baranowski, Esther Kinning, et al.
Clinical Dysmorphology
|
August 25, 2010
Novel features in auriculo-condylar syndrome
Ruth McGowan, Victoria Murday, Esther Kinning, et al.
Genes
|
September 23, 2022
Next Generation Sequencing after Invasive Prenatal Testing in Fetuses with Congenital Malformations: Prenatal or Neonatal Investigation
Alexandra Emms, James Castleman, Stephanie Allen, et al.
American Journal of Medical Genetics. Part A
|
December 20, 2022
First case of desmosterolosis diagnosed by prenatal whole exome sequencing
Chloe Hill, Mona Noureldein, Pallavi Karkhanis, et al.
The Journal of Clinical Endocrinology and Metabolism
|
February 10, 2015
A case of functional growth hormone deficiency and early growth retardation in a child with IFT172 mutations
Angela K Lucas-Herald, Esther Kinning, Aritoshi Iida, et al.
Prenatal Diagnosis
|
December 8, 2023
Diagnosis of inborn errors of metabolism through prenatal exome sequencing with targeted analysis for fetal structural anomalies
Stephanie K Allen, Natalie J Chandler, Esther Kinning, et al.
Journal of Pediatric Genetics
|
September 13, 2016
An Unbalanced Rearrangement of Chromosomes 4:20 is Associated with Childhood Osteoporosis and Reduced Caspase-3 Levels
Esther Kinning, Martin McMillan, Sheila Shepherd, et al.
Page
of 4
Search research articles
Search
Showing results (1-10 of 35) with videos related to
Sort By:
Page
of 4
Prenatal Diagnosis
|
May 9, 2023
Fetal hydrops caused by a novel pathogenic MECOM variant
Elizabeth Wall, Joan Forsyth, Esther Kinning, et al.
Prenatal Diagnosis
|
May 11, 2023
Maternally inherited autosomal dominant PLAG-1 related Silver Russell syndrome in a fetus with intra-uterine growth restriction
Wing Ting Tse, Charlotte Bass, Leo Gurney, et al.
Expert Review of Endocrinology & Metabolism
|
February 21, 2019
A multidisciplinary approach to understanding skeletal dysplasias
Esther Kinning, Helen McDevitt, Rod Duncan, et al.
JCEM Case Reports
|
June 7, 2024
Gonadal Failure in a Male With 3-M Syndrome
Irena Aldhoon-Hainerova, Elizabeth Baranowski, Esther Kinning, et al.
Clinical Dysmorphology
|
August 25, 2010
Novel features in auriculo-condylar syndrome
Ruth McGowan, Victoria Murday, Esther Kinning, et al.
Genes
|
September 23, 2022
Next Generation Sequencing after Invasive Prenatal Testing in Fetuses with Congenital Malformations: Prenatal or Neonatal Investigation
Alexandra Emms, James Castleman, Stephanie Allen, et al.
American Journal of Medical Genetics. Part A
|
December 20, 2022
First case of desmosterolosis diagnosed by prenatal whole exome sequencing
Chloe Hill, Mona Noureldein, Pallavi Karkhanis, et al.
The Journal of Clinical Endocrinology and Metabolism
|
February 10, 2015
A case of functional growth hormone deficiency and early growth retardation in a child with IFT172 mutations
Angela K Lucas-Herald, Esther Kinning, Aritoshi Iida, et al.
Prenatal Diagnosis
|
December 8, 2023
Diagnosis of inborn errors of metabolism through prenatal exome sequencing with targeted analysis for fetal structural anomalies
Stephanie K Allen, Natalie J Chandler, Esther Kinning, et al.
Journal of Pediatric Genetics
|
September 13, 2016
An Unbalanced Rearrangement of Chromosomes 4:20 is Associated with Childhood Osteoporosis and Reduced Caspase-3 Levels
Esther Kinning, Martin McMillan, Sheila Shepherd, et al.
Page
of 4