Shalini N Jhangiani Selected Research

Wieacker syndrome

1/2022

Quantitative dissection of multilocus pathogenic variation in an Egyptian infant with severe neurodevelopmental disorder resulting from multiple molecular diagnoses.

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Shalini N Jhangiani Research Topics

Disease

4	Intellectual Disability (Idiocy) 01/2019 - 01/2018
3	Brain Diseases (Brain Disorder) 01/2022 - 01/2020
3	Arthrogryposis 06/2021 - 02/2016
3	Neoplasms (Cancer) 01/2020 - 10/2008
3	Microcephaly 11/2019 - 04/2014
2	Rare Diseases (Rare Disease) 01/2022 - 01/2019
2	Robinow Syndrome 01/2018 - 03/2016
1	Hyperhidrosis 01/2022
1	Epilepsy (Aura) 01/2022
1	Wieacker syndrome 01/2022
1	Congenital Myasthenic Syndromes (Myasthenia Gravis, Congenital) 01/2022
1	Type IIB Hereditary Sensory And Autonomic Neuropathy 01/2022
1	Urinary Incontinence 01/2022
1	Osteomyelitis 01/2022
1	Renal Insufficiency (Renal Failure) 01/2022
1	Limb-Girdle Muscular Dystrophies (Limb-Girdle Muscular Dystrophy) 01/2022
1	Type 2 Diabetes Mellitus (MODY) 11/2021
1	Type 1 Diabetes Mellitus (Autoimmune Diabetes) 11/2021
1	Emery-Dreifuss Muscular Dystrophy (Scapuloperoneal Muscular Dystrophy) 10/2021
1	Osteoporosis 01/2021
1	Amelogenesis Imperfecta 01/2021
1	Neurodegenerative Diseases (Neurodegenerative Disease) 01/2021
1	Parkinson Disease (Parkinson's Disease) 10/2020
1	Intestinal Pseudo-Obstruction (Intestinal Pseudoobstruction) 01/2020
1	variable Immunodeficiency syndrome 01/2020
1	Neurodevelopmental Disorders 11/2019
1	Chromosome Aberrations (Chromosome Abnormalities) 01/2019
1	sponastrime type Spondyloepimetaphyseal dysplasia 01/2019
1	Strudwick syndrome 01/2019
1	Autistic Disorder (Autism) 01/2019
1	Primary Ovarian Insufficiency 01/2018
1	Primary Immunodeficiency Diseases 01/2018
1	chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature 01/2018
1	Amniotic Band Sequence 01/2018
1	Down Syndrome (Down's Syndrome) 01/2018
1	Hypertrophic Cardiomyopathy (Hypertrophic Obstructive Cardiomyopathy) 01/2018
1	Partington X-linked mental retardation syndrome 01/2018
1	Rett Syndrome (Rett's Disorder) 01/2017
1	Virus Diseases (Viral Diseases) 01/2017
1	Cakut 01/2017
1	Pierre Robin Syndrome (Syndrome, Pierre Robin) 08/2016
1	Airway Obstruction (Choking) 08/2016
1	Persistent Fetal Circulation Syndrome 05/2016
1	Autism Spectrum Disorder 01/2016
1	Pulmonary Arterial Hypertension 01/2016
1	Joint Diseases (Joint Disease) 06/2015
1	Interstitial Lung Diseases (Interstitial Lung Disease) 06/2015
1	Arthritis (Polyarthritis) 06/2015
1	Hypogonadism (Hypergonadotropic Hypogonadism) 05/2015
1	Amenorrhea 05/2015
1	Marfan Syndrome (Marfan's Syndrome) 04/2015

Drug/Important Bio-Agent (IBA)

8	Proteins (Proteins, Gene)FDA Link 01/2022 - 01/2018
2	AutoantibodiesIBA 11/2021 - 06/2015
2	NucleotidesIBA 10/2020 - 01/2017
2	Phosphotransferases (Kinase)IBA 04/2014 - 12/2013
1	muskIBA 01/2022
1	Pharmaceutical PreparationsIBA 01/2022
1	Glutamine (L-Glutamine)FDA Link 01/2022
1	emerinIBA 10/2021
1	Troponin T (Troponin T1)IBA 06/2021
1	Membrane Proteins (Integral Membrane Proteins)IBA 01/2021
1	Coat Protein Complex I (COPI)IBA 01/2021
1	Sodium Citrate FDA LinkGeneric 01/2021
1	Arginine (L-Arginine)FDA Link 01/2020
1	Ion Channels (Ion Channel)IBA 01/2020
1	Neurotransmitter Receptors (Neurotransmitter Receptor)IBA 01/2020
1	TubulinIBA 11/2019
1	2- cyclohexylidenhydrazo- 4- phenyl- thiazoleIBA 01/2019
1	Biological ProductsIBA 01/2019
1	CamptothecinIBA 01/2019
1	Ryanodine Receptor Calcium Release Channel (Ryanodine Receptor)IBA 01/2019
1	RNA Helicases (RNA Helicase)IBA 01/2019
1	Histone Acetyltransferases (Histone Acetyltransferase)IBA 01/2019
1	KinesinsIBA 01/2018
1	Ribosomal Proteins (Ribosomal Protein)IBA 01/2018
1	AcetyltransferasesIBA 01/2018
1	citron-kinaseIBA 01/2018
1	aminoacylase I (aminoacylase)IBA 01/2018
1	serum P-component (CIt)IBA 01/2018
1	Proteasome Endopeptidase Complex (Proteasome)IBA 01/2018
1	Interferon Regulatory FactorsIBA 01/2017
1	ChromatinIBA 01/2017
1	Long Noncoding RNAIBA 05/2016
1	Nonsense Codon (Nonsense Mutation)IBA 03/2016
1	Nicotinic Receptors (Nicotinic Acetylcholine Receptor)IBA 02/2016
1	Myosins (Myosin)IBA 02/2016
1	Endothelin-Converting EnzymesIBA 02/2016
1	Cholinergic Agents (Cholinergics)IBA 02/2016
1	FibrillinsIBA 02/2016
1	myosin-binding protein CIBA 02/2016
1	platelet protein P47 (pleckstrin)IBA 02/2016
1	DNA Transposable Elements (Element, IS)IBA 01/2016
1	Transcription Factors (Transcription Factor)IBA 01/2016
1	Carrier Proteins (Binding Protein)IBA 06/2015
1	GonadotropinsIBA 05/2015
1	SteroidsIBA 05/2015

Therapy/Procedure

1	Surgical Amputation (Amputations) 01/2022
1	Stem Cell Transplantation 01/2020
1	Precision Medicine 01/2019
1	Tracheostomy 08/2016