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Amal AlHashem

Showing results (61-70 of 86) with videos related to

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European Journal of Human Genetics : EJHG|August 30, 2020
Successful application of genome sequencing in a diagnostic setting: 1007 index cases from a clinically heterogeneous cohortAida M Bertoli-Avella, Christian Beetz, Najim Ameziane, et al.
Genome Biology|December 31, 2015
KIAA0556 is a novel ciliary basal body component mutated in Joubert syndromeAnna A W M Sanders, Erik de Vrieze, Anas M Alazami, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 17, 2019
Biallelic variants in the transcription factor PAX7 are a new genetic cause of myopathyRené G Feichtinger, Bettina E Mucha, Holger Hengel, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 20, 2021
Combining exome/genome sequencing with data repository analysis reveals novel gene-disease associations for a wide range of genetic disordersAida M Bertoli-Avella, Krishna K Kandaswamy, Suliman Khan, et al.
Genome Medicine|December 15, 2023
Beyond the exome: utility of long-read whole genome sequencing in exome-negative autosomal recessive diseasesLama AlAbdi, Hanan E Shamseldin, Ebtissal Khouj, et al.
Med (New York, N.Y.)|November 6, 2024
Arab founder variants: Contributions to clinical genomics and precision medicineLama 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 traffickingPilar Chacon-Millan, Antonella Delicato, Arif Mahmood, et al.
Human Genetics|September 24, 2017
Expanding the genetic heterogeneity of intellectual disabilityShams Anazi, Sateesh Maddirevula, Vincenzo Salpietro, et al.
Human Genetics|December 31, 2017
Correction to: Expanding the genetic heterogeneity of intellectual disabilityShams 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 updateHanan E Shamseldin, Ranad Shaheen, Nour Ewida, et al.
Pageof 9

Showing results (61-70 of 86) with videos related to

Sort By:
Pageof 9
European Journal of Human Genetics : EJHG|August 30, 2020
Successful application of genome sequencing in a diagnostic setting: 1007 index cases from a clinically heterogeneous cohortAida M Bertoli-Avella, Christian Beetz, Najim Ameziane, et al.
Genome Biology|December 31, 2015
KIAA0556 is a novel ciliary basal body component mutated in Joubert syndromeAnna A W M Sanders, Erik de Vrieze, Anas M Alazami, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 17, 2019
Biallelic variants in the transcription factor PAX7 are a new genetic cause of myopathyRené G Feichtinger, Bettina E Mucha, Holger Hengel, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 20, 2021
Combining exome/genome sequencing with data repository analysis reveals novel gene-disease associations for a wide range of genetic disordersAida M Bertoli-Avella, Krishna K Kandaswamy, Suliman Khan, et al.
Genome Medicine|December 15, 2023
Beyond the exome: utility of long-read whole genome sequencing in exome-negative autosomal recessive diseasesLama AlAbdi, Hanan E Shamseldin, Ebtissal Khouj, et al.
Med (New York, N.Y.)|November 6, 2024
Arab founder variants: Contributions to clinical genomics and precision medicineLama 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 traffickingPilar Chacon-Millan, Antonella Delicato, Arif Mahmood, et al.
Human Genetics|September 24, 2017
Expanding the genetic heterogeneity of intellectual disabilityShams Anazi, Sateesh Maddirevula, Vincenzo Salpietro, et al.
Human Genetics|December 31, 2017
Correction to: Expanding the genetic heterogeneity of intellectual disabilityShams 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 updateHanan E Shamseldin, Ranad Shaheen, Nour Ewida, et al.
Pageof 9