Showing results 1 to 50 from more than 300,000 results:

1q Deletion: Top KOLs in the world



World Rank Name Topic PersonRank Score help
#1
John * ***** (Reveal full name)
Department of Human Genetics, University of Utah School of M
Also Ranks for:
Rett Syndrome
Prenatal Diagnosis
Mental Retardation
Genetic Counseling
publication abnormalities
1q DeletionReveal score
#2
Mattia ******* (Reveal full name)
UOC Genetica Medica, PO Di Venere, ASL Bari, 70131 Bari, Ita
Also Ranks for:
Prenatal Diagnosis
Coach Syndrome
Situ Hybridization
Apc Gene
single umbilical artery
1q DeletionReveal score
#3
James * ******** (Reveal full name)
Nicholas School of the Environment and Department of Biology
Also Ranks for:
Prenatal Diagnosis
Publication Abnormalities
Human Pair
Cystic Fibrosis
rett syndrome
1q DeletionReveal score
#4
Edwin ******** (Reveal full name)
Center for Medical Genetics, Antwerp University Hospital, Ed
Also Ranks for:
Knockout Mice
Fragile Syndrome
Subtelomeric Rearrangements
Mental Retardation
intellectual disability
1q DeletionReveal score
#5
R ***** **** (Reveal full name)
Department of Medical Genetics, University of Antwerp, Antwe
Also Ranks for:
Intellectual Disability
Fragile Syndrome
Gabaa Receptor
Genetic Background
mental retardation
1q DeletionReveal score
#6
Samantha * * ****** (Reveal full name)
National Institute for Health Research (NIHR) Oxford Biomedi
Also Ranks for:
Fragile Site
Situ Hybridization
Chronic Lymphocytic Leukemia
Genome Sequencing
mental retardation
1q DeletionReveal score
#7
Liesbeth ***** (Reveal full name)
Antwerp University Hospital Center of Medical Genetics Edege
Also Ranks for:
Gabaa Receptor
Human Pair
Situ Hybridization
Mental Retardation
subtelomeric rearrangements
1q DeletionReveal score
#8
Jan * ******* (Reveal full name)
From the Neurogenetics Group (A.S., L.D., T.V.D., L.R.F.C.,
Also Ranks for:
Cystic Fibrosis
Multiple Exostoses
Scn1a Gene
Situ Hybridization
mental retardation
1q DeletionReveal score
#9
William * ******* (Reveal full name)
Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA
Also Ranks for:
Prostate Cancer
Retinoblastoma Protein
Cyclin D1
Gene Expression
cell cycle
1q DeletionReveal score
#10
Christopher * ***** (Reveal full name)
Division of Genetics and Genomics, Boston Children's Hospita
Also Ranks for:
Neuronal Migration
Somatic Mutations
Cortical Development
Periventricular Heterotopia
cerebral cortex
1q DeletionReveal score
#11
Jonathan ***** (Reveal full name)
Center for Neurobehavioral Genetics, University of Californi
Also Ranks for:
Major Depression
Quantitative Trait
Mental Retardation
Depressive Disorder
chinese women
1q DeletionReveal score
#12
Bert * * ** ***** (Reveal full name)
Department of Human Genetics, Radboud University Medical Cen
Also Ranks for:
Novo Mutations
Fmr1 Gene
Human Pair
Intellectual Disability
mental retardation
1q DeletionReveal score
#13
Robin * ****** (Reveal full name)
Genes, Development and Disease Theme, Institute of Child Hea
Also Ranks for:
Short Stature
Cleft Palate
Mental Retardation
Crouzon Syndrome
fibroblast growth factor
1q DeletionReveal score
#14
Tessa ******* (Reveal full name)
St George’s Hospital, London, United Kingdom; | St George's
Also Ranks for:
Genetic Testing
Prenatal Diagnosis
Fetal Hydrops
Exome Sequencing
developmental disorders
1q DeletionReveal score
#15
Yolande *** ***** (Reveal full name)
Department of Clinical Genetics, Erasmus MC University Medic
Also Ranks for:
Stickler Syndrome
Sex Development
Upper Limb Anomalies
Germ Cell
vacterl association
1q DeletionReveal score
#16
Antonia ***** ********** (Reveal full name)
Medical Genetics Division, "Di Venere Hospital", Carbonara,
Also Ranks for:
Long Survival
Human Pair
Peritoneal Mesothelioma
Single Umbilical Artery
situ hybridization
1q DeletionReveal score
#17
Rob *** ***** (Reveal full name)
Department of Medical Genetics, University of Antwerp, Antwe
Also Ranks for:
Situ Hybridization
Subtelomeric Rearrangements
Mental Retardation
Scn1a Gene
fragile site
1q DeletionReveal score
#18
Stefaan ******* (Reveal full name)
Department of Medical Genetics, University Hospital Antwerp,
Also Ranks for:
Smei Patients
Fragile Site
Subtelomeric Deletions
Mental Retardation
scn1a gene
1q DeletionReveal score
#19
Annick ******* (Reveal full name)
Department of Child Neurology, University Hospital Antwerp,
Also Ranks for:
Routine Diagnostics
Central Nervous
Mental Retardation
Streptococcus Pneumoniae
intrathecal treatment
1q DeletionReveal score
#20
Orsetta ******** (Reveal full name)
Department of Molecular Medicine, University of Pavia, Pavia
Also Ranks for:
Human Pair
Mental Retardation
Intellectual Disability
Prenatal Diagnosis
situ hybridization
1q DeletionReveal score
#21
SARAH * ******** (Reveal full name)
Department of Brain Sciences, London Institute of Medical Sc
Also Ranks for:
Genetic Basis
Relative Macrocephaly
Genome Sequencing
Central Obesity
pes cavus
1q DeletionReveal score
#22
Gurbax ***** ****** (Reveal full name)
From the Cytogenetics Laboratory, Department of Laboratory M
Also Ranks for:
Partial Trisomy
Human Neuroblastomas
Short Arm
Marker Chromosomes
situ hybridization
1q DeletionReveal score
#23
Kutay ***** (Reveal full name)
From the Divisions of Maternal-Fetal Medicinea and Genetics,
Also Ranks for:
Mosaic Mongolism
Chromosomal Abnormalities
Chromosomes Human
Long Arm
partial trisomy
1q DeletionReveal score
#24
Richard * ******* (Reveal full name)
The Children's Hospital, University of Missouri‐Columbia, Co
Also Ranks for:
Pseudotumor Cerebri
Proximal Deletion
Sex Ratio
Diabetic Ketoacidosis
long arm
1q DeletionReveal score
#25
Leda ******* (Reveal full name)
School of Medicine and Surgery, University of Milano-Bicocca
Also Ranks for:
Situ Hybridization
Human Pair
Xeroderma Pigmentosum
Prenatal Diagnosis
premature ovarian failure
1q DeletionReveal score
#26
Renato ******** (Reveal full name)
Department of Brain and Behavioural Sciences, University of
Also Ranks for:
Joubert Syndrome
Preterm Infants
Maternal Sensitivity
Corpus Callosum
slc6a4 methylation
1q DeletionReveal score
#27
Rosanna ******** (Reveal full name)
Department of Medicine and Aging Sciences, ‘G. D'Annunzio’ U
Also Ranks for:
Neonatal Suppurative Parotitis
Mental Retardation
Incontinentia Pigmenti
Antithrombin Iii
mandibuloacral dysplasia
1q DeletionReveal score
#28
David * ********* (Reveal full name)
Genomic Medicine Institute, Geisinger, Danville, Pennsylvani
Also Ranks for:
Human Pair
Prenatal Diagnosis
Uniparental Disomy
Angelman Syndrome
situ hybridization
1q DeletionReveal score
#29
Livija ***** (Reveal full name)
Division of Human Genetics. | Department of Pediatrics, The
Also Ranks for:
Chops Syndrome
Manifesting Carriers
Intellectual Disability
Sil1 Mutations
duchenne muscular dystrophy
1q DeletionReveal score
#30
Richard * ****** (Reveal full name)
Departments of Obstetrics/Gynecology and Pediatrics, Wright
Also Ranks for:
Respiratory Insufficiency
Convulsive Disorder
Mental Retardation
Normal Cell
craniofacial dysostosis
1q DeletionReveal score
#31
Richard ******** (Reveal full name)
Genetics Center, Case Western Reserve School of Medicine, 20
Also Ranks for:
Clinicopathologic Conference
Distal Interstitial Deletion
Normal Cell
Respiratory Insufficiency
1q DeletionReveal score
#32
N * ***** (Reveal full name)
Department of Medical Genetics and Birth Defects, Children’s
Also Ranks for:
Aneuploidy Cells
Human Dermatoglyphics Genitalia
New Deletion Syndrome
Male Heart Defects
cultured chromosomes
1q DeletionReveal score
#33
Giancarlo ******* (Reveal full name)
Telethon Institute of Genetics and Medicine, Pozzuoli, Italy
Also Ranks for:
Steroid Sulphatase
Enzyme Replacement Therapy
Glycogen Storage
Chondrodysplasia Punctata
pompe disease
1q DeletionReveal score
#34
Generoso ****** (Reveal full name)
Department of Translational Medicine, “Federico II” Universi
Also Ranks for:
Lysinuric Protein Intolerance
Pompe Disease
Mental Retardation
Brush Border
chondrodysplasia punctata
1q DeletionReveal score
#35
Maria *** ********* (Reveal full name)
Department of Translational Medicine, Section of Pediatrics,
Also Ranks for:
Celiac Disease
Slc7a7 Gene
Spina Bifida
Amino Acid
lysinuric protein intolerance
1q DeletionReveal score
#36
Daniela ***** (Reveal full name)
Pediatric Unit, San Giovanni di Dio e Ruggi D’Aragona Univer
Also Ranks for:
Marfan Syndrome
Gsd1b Patients
Molecular Diagnosis
Neurofibromatosis Type
storage disease
1q DeletionReveal score
#37
Paolo ***** (Reveal full name)
Fetal Medicine Unit, Di Venere and Sarcone Hospitals, ASL, B
Also Ranks for:
Great Arteries
Fourth Ventricle
Posterior Fossa
Single Umbilical Artery
prenatal diagnosis
1q DeletionReveal score
#38
Alfonso ****** (Reveal full name)
Department of Translational Medicine, Federico II University
Also Ranks for:
Pompe Disease
Gastrointestinal Disorders
Cerebral Palsy
Enzyme Replacement Therapy
heelstick procedures
1q DeletionReveal score
#39
M ****** ********* (Reveal full name)
Departments of, Pediatrics, Radiology and, Biomorphological
Also Ranks for:
Lyposomal Anthracyclines
Interstitial Deletion
Local Hyperthermia
Sequential Chemotherapy
long arm
1q DeletionReveal score
#40
P ***** (Reveal full name)
Department of Medical Genetics, I.R.C.C.S. “Saverio de Belli
Also Ranks for:
Phenotypic Implications
Cytogenetic Characterization
Clinical Case Report
Fluorescence Karyotyping Human
chromosome 1
1q DeletionReveal score
#41
A ******* (Reveal full name)
Department of Medical, Surgical, Neurological, Metabolic and
Also Ranks for:
Mage Imt
Phenotypic Implications
Cytogenetic Characterization
Diabetic Patients
clinical case report
1q DeletionReveal score
#42
M * ***** (Reveal full name)
Department of Paediatrics, Federico II University, Naples, I
Also Ranks for:
Interstitial Deletion
Long Arm
Mild Phenotype
Chromosome 1
pair female humans
1q DeletionReveal score
#43
M * ********* (Reveal full name)
Department of Medical Genetics, I.R.C.C.S. “Saverio de Belli
Also Ranks for:
Unusual Case
Situ Hybridization
Azoospermic Male
Cytogenetic Characterization
phenotypic implications
1q DeletionReveal score
#44
Lucia ****** (Reveal full name)
Telethon Institute of Genetics and Medicine (TIGEM), Via Cam
Also Ranks for:
Human Pair
Chondrodysplasia Punctata
Roberts Syndrome
Mental Retardation
interstitial deletion
1q DeletionReveal score
#45
Antonio ** ***** (Reveal full name)
Department of Medical Genetics, I.R.C.C.S. “Saverio de Belli
Also Ranks for:
Coach Syndrome
4 Mosaicism
Congenital Hepatic Fibrosis
Mental Retardation
situ hybridization
1q DeletionReveal score
#46
Elaine * ****** (Reveal full name)
Department of Pediatrics, Perelman School of Medicine at the
Also Ranks for:
Human Pair
Deletion Syndrome
Situ Hybridization
Fibroblast Growth Factor
intellectual disability
1q DeletionReveal score
#47
Peter ******** (Reveal full name)
Institute of Human Genetics, University Hospital Hamburg-Epp
Also Ranks for:
Generation Sequencing
Imprinting Defect
Angelman Syndrome
Osteogenesis Imperfecta
genetic counseling
1q DeletionReveal score
#48
Levi * ******** (Reveal full name)
Roche/Genentech, South San Francisco, CA, USA | Eli Lilly an
Also Ranks for:
Prostate Cancer
Raf Inhibition
Cell Lines
Exome Sequencing
brain metastases
1q DeletionReveal score
#49
Naomichi ********* (Reveal full name)
Yokohama City University Graduate School of Medicine, Yokoha
Also Ranks for:
Intellectual Disability
Situ Hybridization
West Syndrome
Exome Sequencing
developmental delay
1q DeletionReveal score
#50
Dagmar ****** (Reveal full name)
Genetische Beratungsstelle der Abteilung für pädiatrische Ge
Also Ranks for:
Multiple Child
Distal Long Arm
Trna Genes
Specific Syndrome
nucleotide sequences
1q DeletionReveal score