Ohad S Birk Selected Research

Meconium Ileus

5/2012

Meconium ileus caused by mutations in GUCY2C, encoding the CFTR-activating guanylate cyclase 2C.

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Ohad S Birk Research Topics

Disease

5	Intellectual Disability (Idiocy) 10/2022 - 05/2014
4	Muscle Hypotonia (Hypotonia) 10/2022 - 11/2015
4	Microcephaly 05/2022 - 05/2014
3	Atrophy 05/2014 - 11/2006
2	Rare Diseases (Rare Disease) 01/2024 - 01/2023
2	Myopia 11/2023 - 09/2011
2	Hyperammonemia 01/2023 - 01/2019
2	Muscular Diseases (Myopathy) 01/2023 - 01/2022
2	Ciliopathies 01/2021 - 07/2017
2	Retinitis Pigmentosa (Pigmentary Retinopathy) 01/2021 - 01/2020
2	Dehydration (Water Stress) 01/2014 - 11/2010
1	Infections 02/2024
1	And Sclerosing Cholangitis Alopecia Leukocyte Vacuoles Ichthyosis 01/2024
1	Ichthyosis (Xeroderma) 01/2024
1	Sclerosing Cholangitis 01/2024
1	Thrombotic Microangiopathies 10/2023
1	Pneumonia (Pneumonitis) 10/2023
1	Otosclerosis 06/2023
1	Piebaldism (Partial Albinism) 06/2023
1	Hyperinsulinism (Hyperinsulinemia) 01/2023
1	Failure to Thrive 10/2022
1	Quadriplegia (Spastic Quadriplegia) 10/2022
1	Hearing Loss (Hearing Impairment) 10/2022
1	Penis agenesis 10/2022
1	Cryptorchidism (Undescended Testes) 10/2022
1	Chorea (Rheumatic Chorea) 10/2022
1	Abdominal Obesity 05/2022
1	Pain (Aches) 05/2022
1	Hypopigmentation (Hypomelanosis) 01/2022
1	Fasciculation (Fasciculations) 01/2022
1	Congenital Hypothyroidism (Cretinism) 01/2022
1	Infertility (Sterility) 01/2021
1	Male Infertility (Male Sterility) 01/2021
1	Type 4B1 Charcot-Marie-Tooth disease 10/2020
1	Cone-Rod Dystrophies 01/2020
1	Stargardt Disease 01/2020
1	Gout 12/2019
1	Hyperuricemia 12/2019
1	Sphingolipidoses (Sphingolipidosis) 11/2019
1	Inborn Errors Metabolism (Inborn Errors of Metabolism) 01/2019
1	Neuroblastoma 01/2019
1	Atrial Fibrillation 11/2018
1	Schizophrenia (Dementia Praecox) 01/2018
1	Agenesis of Cerebellar Vermis 07/2017
1	Myofibrillar Myopathy 01/2017
1	Learning Disabilities (Learning Disability) 01/2017
1	Seizures (Absence Seizure) 01/2017
1	Contracture 12/2016
1	Distal Myopathies (Distal Muscular Dystrophy) 12/2016
1	Dyskinesias (Dyskinesia) 01/2016
1	Blindness (Hysterical Blindness) 01/2016
1	Leber Congenital Amaurosis 01/2016
1	Epilepsy (Aura) 05/2014

Drug/Important Bio-Agent (IBA)

10	Proteins (Proteins, Gene)FDA Link 06/2023 - 07/2006
3	Retinaldehyde (Retinal)IBA 11/2023 - 01/2016
3	EnzymesIBA 01/2023 - 11/2019
2	RNA (Ribonucleic Acid)IBA 02/2024 - 01/2022
2	Receptor Protein-Tyrosine Kinases (Tyrosine Kinase Receptors)IBA 06/2023 - 09/2007
2	Insulin (Novolin)FDA Link 05/2022 - 02/2009
2	Lactic Acid (Lactate)FDA LinkGeneric 12/2019 - 01/2019
2	Potassium Channels (Potassium Channel)IBA 11/2018 - 08/2008
2	PotassiumIBA 11/2018 - 03/2003
2	6-propylchromone-2-carboxylic acid (PCCA)IBA 05/2014 - 10/2010
2	Epidermal Growth Factor (EGF)IBA 03/2014 - 09/2007
2	SaltsIBA 01/2014 - 11/2010
1	Claudin-1IBA 01/2024
1	Tight Junction ProteinsIBA 01/2024
1	SugarsIBA 10/2023
1	Tumor Viral Antigens (Large T Antigen)IBA 10/2023
1	Polysaccharides (Glycans)IBA 10/2023
1	Complement System Proteins (Complement)IBA 10/2023
1	Neuraminidase (Sialidase)IBA 10/2023
1	ChromatinIBA 06/2023
1	Glutamate DehydrogenaseIBA 01/2023
1	mevalonolactoneIBA 01/2023
1	Hydroxymethylglutaryl CoA Reductases (HMG CoA Reductase)IBA 01/2023
1	Hydroxymethylglutaryl-CoA Reductase Inhibitors (HMG-CoA Reductase Inhibitors)IBA 01/2023
1	tRNA MethyltransferasesIBA 05/2022
1	Thyrotropin (Thyroid-Stimulating Hormone)FDA Link 01/2022
1	Melanins (Melanin)IBA 01/2022
1	Stomoxys serine protease 3IBA 01/2021
1	Cyclin AIBA 01/2021
1	myotubularinIBA 10/2020
1	D-lactate dehydrogenaseIBA 12/2019
1	Uric Acid (Urate)IBA 12/2019
1	LipidsIBA 11/2019
1	Microtubule-Associated Proteins (Microtubule-Associated Protein 2)IBA 01/2019
1	TubulinIBA 01/2019
1	CitrullineIBA 01/2019
1	Shal Potassium ChannelsIBA 11/2018
1	Serine (L-Serine)FDA Link 01/2018
1	Arginine (L-Arginine)FDA Link 01/2018
1	Alkaline PhosphataseIBA 01/2017
1	Cytoskeletal ProteinsIBA 01/2017
1	Peptide Hydrolases (Proteases)FDA Link 01/2017
1	Glycosylphosphatidylinositols (Glycosyl-Phosphatidylinositol)IBA 01/2017
1	Proline (L-Proline)FDA Link 12/2016
1	CationsIBA 01/2016
1	Ryanodine Receptor Calcium Release Channel (Ryanodine Receptor)IBA 11/2015

Therapy/Procedure

1	Tracheostomy 01/2022