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Genome Medicine
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December 15, 2023
Beyond the exome: utility of long-read whole genome sequencing in exome-negative autosomal recessive diseases
Lama AlAbdi, Hanan E Shamseldin, Ebtissal Khouj, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
April 8, 2022
The morbid genome of ciliopathies: an update
Hanan E Shamseldin, Ranad Shaheen, Nour Ewida, et al.
Med (New York, N.Y.)
|
November 6, 2024
Arab founder variants: Contributions to clinical genomics and precision medicine
Lama AlAbdi, Sateesh Maddirevula, Bayan Aljamal, et al.
American Journal of Human Genetics
|
February 5, 2026
Bi-allelic loss-of-function variants in JKAMP cause a neurodevelopmental syndrome associated with dysregulation of GPR37 trafficking
Pilar Chacon-Millan, Antonella Delicato, Arif Mahmood, et al.
Human Genetics
|
September 24, 2017
Expanding the genetic heterogeneity of intellectual disability
Shams Anazi, Sateesh Maddirevula, Vincenzo Salpietro, et al.
Human Genetics
|
December 31, 2017
Correction to: Expanding the genetic heterogeneity of intellectual disability
Shams Anazi, Sateesh Maddirevula, Vincenzo Salpietro, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
February 15, 2020
The morbid genome of ciliopathies: an update
Hanan E Shamseldin, Ranad Shaheen, Nour Ewida, et al.
Human Genetics
|
September 1, 2018
Genetic variants in components of the NALCN-UNC80-UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies)
Nuria C Bramswig, Aida M Bertoli-Avella, Beate Albrecht, et al.
Clinical Genetics
|
December 19, 2018
The many faces of peroxisomal disorders: Lessons from a large Arab cohort
Jumanah Alshenaifi, Nour Ewida, Shams Anazi, et al.
Genome Medicine
|
September 30, 2025
Adult genomic medicine: lessons from a multisite study of 2700 patients
Khadijah Bakur, Halima Hamid, Bader Alhaddad, et al.
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Search research articles
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Showing results (71-80 of 94) with videos related to
Sort By:
Page
of 10
Genome Medicine
|
December 15, 2023
Beyond the exome: utility of long-read whole genome sequencing in exome-negative autosomal recessive diseases
Lama AlAbdi, Hanan E Shamseldin, Ebtissal Khouj, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
April 8, 2022
The morbid genome of ciliopathies: an update
Hanan E Shamseldin, Ranad Shaheen, Nour Ewida, et al.
Med (New York, N.Y.)
|
November 6, 2024
Arab founder variants: Contributions to clinical genomics and precision medicine
Lama AlAbdi, Sateesh Maddirevula, Bayan Aljamal, et al.
American Journal of Human Genetics
|
February 5, 2026
Bi-allelic loss-of-function variants in JKAMP cause a neurodevelopmental syndrome associated with dysregulation of GPR37 trafficking
Pilar Chacon-Millan, Antonella Delicato, Arif Mahmood, et al.
Human Genetics
|
September 24, 2017
Expanding the genetic heterogeneity of intellectual disability
Shams Anazi, Sateesh Maddirevula, Vincenzo Salpietro, et al.
Human Genetics
|
December 31, 2017
Correction to: Expanding the genetic heterogeneity of intellectual disability
Shams Anazi, Sateesh Maddirevula, Vincenzo Salpietro, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
February 15, 2020
The morbid genome of ciliopathies: an update
Hanan E Shamseldin, Ranad Shaheen, Nour Ewida, et al.
Human Genetics
|
September 1, 2018
Genetic variants in components of the NALCN-UNC80-UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies)
Nuria C Bramswig, Aida M Bertoli-Avella, Beate Albrecht, et al.
Clinical Genetics
|
December 19, 2018
The many faces of peroxisomal disorders: Lessons from a large Arab cohort
Jumanah Alshenaifi, Nour Ewida, Shams Anazi, et al.
Genome Medicine
|
September 30, 2025
Adult genomic medicine: lessons from a multisite study of 2700 patients
Khadijah Bakur, Halima Hamid, Bader Alhaddad, et al.
Page
of 10