Aleksander Jamsheer Selected Research

Elements

1/2022

Genotype-phenotype correlation in clubfoot (talipes equinovarus).

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Aleksander Jamsheer Research Topics

Disease

3	Inborn Genetic Diseases (Disease, Hereditary) 01/2020 - 04/2014
2	Hypogonadism (Hypergonadotropic Hypogonadism) 01/2022 - 01/2020
2	Intellectual Disability (Idiocy) 01/2020 - 05/2015
2	Syndactyly (Polysyndactyly) 04/2014 - 11/2012
1	Mucopolysaccharidosis III (Sanfilippo Syndrome) 09/2022
1	Patterson Stevenson syndrome 09/2022
1	Metabolic Diseases (Metabolic Disease) 09/2022
1	Down Syndrome (Down's Syndrome) 02/2022
1	Clubfoot (Talipes Equinovarus) 01/2022
1	Abducens Nerve Diseases (Sixth Nerve Palsy) 12/2021
1	Craniofrontonasal dysplasia 01/2021
1	Osteogenesis Imperfecta (Lobstein Disease) 01/2021
1	Combined Pituitary Hormone Deficiency 01/2020
1	Mandibulofacial Dysostosis (Treacher Collins Syndrome) 01/2020
1	Renal Insufficiency (Renal Failure) 01/2020
1	Craniosynostoses (Craniosynostosis) 01/2020
1	Genee-Wiedemann syndrome 01/2020
1	Dysostoses 01/2020
1	Pyle disease 01/2020
1	Nager type Acrofacial dysostosis 01/2020
1	Desbuquois syndrome 07/2016
1	Addison Disease (Addison's Disease) 01/2016
1	Bradycardia 01/2016
1	Heart Block 01/2016
1	Respiratory Insufficiency (Respiratory Failure) 01/2016
1	Ectrodactyly 05/2015
1	Oculodentodigital Dysplasia 04/2014
1	Anodontia (Hypodontia) 04/2014
1	Dental Enamel Hypoplasia 04/2014
1	Metacarpal 4 5 Fusion 09/2013
1	Coloboma (Colobomas) 01/2013
1	Trisomy (Trisomies) 01/2013
1	fryns hofkens fabry syndrome 01/2013
1	Hypertelorism 11/2012
1	Polydactyly (Polydactylism) 11/2012
1	Megalencephaly 11/2012
1	Craniofacial Abnormalities 11/2012
1	Greig cephalopolysyndactyly syndrome 11/2012
1	Aniridia 03/2012
1	Type E Brachydactyly 01/2012
1	Neurofibromatosis 1 (Neurofibromatosis Type I) 07/2011
1	Osteopoikilosis 07/2010

Drug/Important Bio-Agent (IBA)

2	Biomarkers (Surrogate Marker)IBA 02/2022 - 07/2011
2	DNA (Deoxyribonucleic Acid)IBA 01/2022 - 01/2020
2	NucleotidesIBA 01/2022 - 01/2020
2	LigandsIBA 01/2021 - 01/2020
2	Proteins (Proteins, Gene)FDA Link 01/2020 - 05/2015
2	Nonsense Codon (Nonsense Mutation)IBA 09/2013 - 01/2012
1	Acetylglucosaminidase (NAGase)IBA 09/2022
1	9 alpha,11 alpha,15 alpha- trihydroxy- 16- phenoxy- 17,18,19,20- tetranorprosta- 4,5,13- trienoic acid (TPT)IBA 09/2022
1	alpha-N-acetyl-D-glucosaminidase (alpha-N-acetylglucosaminidase)IBA 09/2022
1	Folic Acid (Vitamin M)FDA LinkGeneric 02/2022
1	Transcription Factors (Transcription Factor)IBA 01/2022
1	ElementsIBA 01/2022
1	Hormones (Hormone)IBA 12/2021
1	Collagen Type I (Type I Collagen)IBA 01/2021
1	Ephrin-B1 (Ephrin B1)IBA 01/2021
1	CollagenIBA 01/2021
1	RNA (Ribonucleic Acid)IBA 01/2020
1	Semaphorin-3AIBA 01/2020
1	Dihydroorotate DehydrogenaseIBA 01/2020
1	Growth Hormone (Somatotropin)IBA 07/2016
1	Adrenocorticotropic Hormone (ACTH)FDA Link 01/2016
1	Hydrocortisone (Cortisol)FDA LinkGeneric 01/2016
1	disodium salt olean-11,13(18)-diene-3,30-diol dihemiphthalateIBA 04/2014
1	Retinaldehyde (Retinal)IBA 01/2013
1	Tuberculin (PPD)IBA 11/2012
1	Complementary DNA (cDNA)IBA 07/2010
1	Amino Acids FDA Link 07/2010

Therapy/Procedure

1	Kidney Transplantation 01/2020
1	Sutures (Suture) 01/2020
1	Defibrillators (Defibrillator) 01/2016
1	Ligation 03/2012