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The American Journal of Case Reports
|
March 26, 2018
Phenotypic Variability of c.436delC DCAF17 Gene Mutation in Woodhouse-Sakati Syndrome
Mohammad Almeqdadi, Jennifer L Kemppainen, Pavel N Pichurin, et al.
Journal of Genetic Counseling
|
April 23, 2016
The Genetic Counselor's Role in Managing Ethical Dilemmas Arising in the Laboratory Setting
Jessica R Balcom, Katrina E Kotzer, Lindsey A Waltman, et al.
Kidney International
|
July 23, 2021
Establishing a nephrology genetic clinic
Filippo Pinto E Vairo, Jennifer L Kemppainen, John C Lieske, et al.
Rheumatology (Oxford, England)
|
January 30, 2021
Comment on: Anti-tumour necrosis factor treatment for the prevention of ischaemic events in patients with deficiency of adenosine deaminase 2 (DADA2)
Filippo Pinto E Vairo, Matthew J Koster, Jennifer L Kemppainen, et al.
Cold Spring Harbor Molecular Case Studies
|
August 21, 2019
Three rare disease diagnoses in one patient through exome sequencing
Alejandro Ferrer, Laura Schultz-Rogers, Charu Kaiwar, et al.
Neuromuscular Disorders : NMD
|
January 20, 2019
Targeted gene approach with biochemical assay confirms ABCD1 mutation of X-linked adrenoleukodystrophy in a 62-year-old man with gait imbalance
Michelle L Mauermann, Zhiyv Niu, Deborah L Renaud, et al.
JAMA Oncology
|
May 18, 2023
Risk of Syndrome-Associated Cancers Among First-Degree Relatives of Patients With Pancreatic Ductal Adenocarcinoma With Pathogenic or Likely Pathogenic Germline Variants
Xuan Chen, Margaret A Meyer, Jennifer L Kemppainen, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
March 1, 2022
Pancreatic cancer risk to siblings of probands in bilineal cancer settings
Kari G Rabe, Maria A Stevens, Amanda Toledo Hernández, et al.
Journal of Clinical Immunology
|
July 29, 2020
Successful Treatment of Skewed Lyonization Associated with X-Linked CGD in a Female Presenting with Recalcitrant Crohn's Disease
Erica L Macke, Filippo Pinto E Vairo, Deepti Vellaichamy Manian, et al.
Gynecologic Oncology
|
February 7, 2018
Increasing genetic counseling referral rates through bundled interventions after ovarian cancer diagnosis
Casey L Swanson, Amanika Kumar, Joy M Maharaj, et al.
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of 3
Search research articles
Search
Showing results (1-10 of 26) with videos related to
Sort By:
Page
of 3
The American Journal of Case Reports
|
March 26, 2018
Phenotypic Variability of c.436delC DCAF17 Gene Mutation in Woodhouse-Sakati Syndrome
Mohammad Almeqdadi, Jennifer L Kemppainen, Pavel N Pichurin, et al.
Journal of Genetic Counseling
|
April 23, 2016
The Genetic Counselor's Role in Managing Ethical Dilemmas Arising in the Laboratory Setting
Jessica R Balcom, Katrina E Kotzer, Lindsey A Waltman, et al.
Kidney International
|
July 23, 2021
Establishing a nephrology genetic clinic
Filippo Pinto E Vairo, Jennifer L Kemppainen, John C Lieske, et al.
Rheumatology (Oxford, England)
|
January 30, 2021
Comment on: Anti-tumour necrosis factor treatment for the prevention of ischaemic events in patients with deficiency of adenosine deaminase 2 (DADA2)
Filippo Pinto E Vairo, Matthew J Koster, Jennifer L Kemppainen, et al.
Cold Spring Harbor Molecular Case Studies
|
August 21, 2019
Three rare disease diagnoses in one patient through exome sequencing
Alejandro Ferrer, Laura Schultz-Rogers, Charu Kaiwar, et al.
Neuromuscular Disorders : NMD
|
January 20, 2019
Targeted gene approach with biochemical assay confirms ABCD1 mutation of X-linked adrenoleukodystrophy in a 62-year-old man with gait imbalance
Michelle L Mauermann, Zhiyv Niu, Deborah L Renaud, et al.
JAMA Oncology
|
May 18, 2023
Risk of Syndrome-Associated Cancers Among First-Degree Relatives of Patients With Pancreatic Ductal Adenocarcinoma With Pathogenic or Likely Pathogenic Germline Variants
Xuan Chen, Margaret A Meyer, Jennifer L Kemppainen, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
March 1, 2022
Pancreatic cancer risk to siblings of probands in bilineal cancer settings
Kari G Rabe, Maria A Stevens, Amanda Toledo Hernández, et al.
Journal of Clinical Immunology
|
July 29, 2020
Successful Treatment of Skewed Lyonization Associated with X-Linked CGD in a Female Presenting with Recalcitrant Crohn's Disease
Erica L Macke, Filippo Pinto E Vairo, Deepti Vellaichamy Manian, et al.
Gynecologic Oncology
|
February 7, 2018
Increasing genetic counseling referral rates through bundled interventions after ovarian cancer diagnosis
Casey L Swanson, Amanika Kumar, Joy M Maharaj, et al.
Page
of 3