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Journal of Medical Genetics
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December 5, 2023
Short-read whole genome sequencing identifies causative variants in most individuals with previously unexplained aniridia
Hildegard Nikki Hall, David Parry, Mihail Halachev, et al.
Hormone Research in Paediatrics
|
June 5, 2024
Genetic Findings in Short Turkish Children Born to Consanguineous Parents
Sjoerd D Joustra, Emregul Isik, Jan M Wit, et al.
British Journal of Cancer
|
October 25, 2018
Long-term efficacy, tolerability and overall survival in patients with platinum-sensitive, recurrent high-grade serous ovarian cancer treated with maintenance olaparib capsules following response to chemotherapy
Michael Friedlander, Ursula Matulonis, Charlie Gourley, et al.
The Journal of Allergy and Clinical Immunology
|
November 13, 2017
Biallelic interferon regulatory factor 8 mutation: A complex immunodeficiency syndrome with dendritic cell deficiency, monocytopenia, and immune dysregulation
Venetia Bigley, Sheetal Maisuria, Urszula Cytlak, et al.
Journal of Neurology
|
December 14, 2022
Genotype-phenotype characterisation of long survivors with motor neuron disease in Scotland
Danielle J Leighton, Morad Ansari, Judith Newton, et al.
Human Mutation
|
July 18, 2025
Whole Genome Sequencing of "Mutation-Negative" Individuals With Cornelia de Lange Syndrome
Morad Ansari, Mihail Halachev, David Parry, et al.
Bioorganic & Medicinal Chemistry Letters
|
October 2, 2007
Pyrazolo[1,5-a]pyrimidines as orally available inhibitors of cyclin-dependent kinase 2
Kamil Paruch, Michael P Dwyer, Carmen Alvarez, et al.
ACS Medicinal Chemistry Letters
|
June 6, 2014
Discovery of Dinaciclib (SCH 727965): A Potent and Selective Inhibitor of Cyclin-Dependent Kinases
Kamil Paruch, Michael P Dwyer, Carmen Alvarez, et al.
Medrxiv : the Preprint Server for Health Sciences
|
April 8, 2024
Quantification of Fundus Autofluorescence Features in a Molecularly Characterized Cohort of More Than 3500 Inherited Retinal Disease Patients from the United Kingdom
William Woof, Thales A C de Guimarães, Saoud Al-Khuzaei, et al.
Ophthalmology Science
|
February 3, 2025
Quantification of Fundus Autofluorescence Features in a Molecularly Characterized Cohort of >3500 Patients with Inherited Retinal Disease from the United Kingdom
William A Woof, Thales A C de Guimarães, Saoud Al-Khuzaei, et al.
Page
of 11
Search research articles
Search
Showing results (91-100 of 102) with videos related to
Sort By:
Page
of 11
Journal of Medical Genetics
|
December 5, 2023
Short-read whole genome sequencing identifies causative variants in most individuals with previously unexplained aniridia
Hildegard Nikki Hall, David Parry, Mihail Halachev, et al.
Hormone Research in Paediatrics
|
June 5, 2024
Genetic Findings in Short Turkish Children Born to Consanguineous Parents
Sjoerd D Joustra, Emregul Isik, Jan M Wit, et al.
British Journal of Cancer
|
October 25, 2018
Long-term efficacy, tolerability and overall survival in patients with platinum-sensitive, recurrent high-grade serous ovarian cancer treated with maintenance olaparib capsules following response to chemotherapy
Michael Friedlander, Ursula Matulonis, Charlie Gourley, et al.
The Journal of Allergy and Clinical Immunology
|
November 13, 2017
Biallelic interferon regulatory factor 8 mutation: A complex immunodeficiency syndrome with dendritic cell deficiency, monocytopenia, and immune dysregulation
Venetia Bigley, Sheetal Maisuria, Urszula Cytlak, et al.
Journal of Neurology
|
December 14, 2022
Genotype-phenotype characterisation of long survivors with motor neuron disease in Scotland
Danielle J Leighton, Morad Ansari, Judith Newton, et al.
Human Mutation
|
July 18, 2025
Whole Genome Sequencing of "Mutation-Negative" Individuals With Cornelia de Lange Syndrome
Morad Ansari, Mihail Halachev, David Parry, et al.
Bioorganic & Medicinal Chemistry Letters
|
October 2, 2007
Pyrazolo[1,5-a]pyrimidines as orally available inhibitors of cyclin-dependent kinase 2
Kamil Paruch, Michael P Dwyer, Carmen Alvarez, et al.
ACS Medicinal Chemistry Letters
|
June 6, 2014
Discovery of Dinaciclib (SCH 727965): A Potent and Selective Inhibitor of Cyclin-Dependent Kinases
Kamil Paruch, Michael P Dwyer, Carmen Alvarez, et al.
Medrxiv : the Preprint Server for Health Sciences
|
April 8, 2024
Quantification of Fundus Autofluorescence Features in a Molecularly Characterized Cohort of More Than 3500 Inherited Retinal Disease Patients from the United Kingdom
William Woof, Thales A C de Guimarães, Saoud Al-Khuzaei, et al.
Ophthalmology Science
|
February 3, 2025
Quantification of Fundus Autofluorescence Features in a Molecularly Characterized Cohort of >3500 Patients with Inherited Retinal Disease from the United Kingdom
William A Woof, Thales A C de Guimarães, Saoud Al-Khuzaei, et al.
Page
of 11