Showing results 1 to 50 from more than 200,000 results:

Chondrodysplasia Punctata: Top KOLs in the world



World Rank Name Topic PersonRank Score help
#1
Leslie * ********* (Reveal full name)
Victorian Clinical Genetics Services, Melbourne, Victoria, A
Also Ranks for:
Chondrodysplasia Punctata
Fragile Site
Informed Choice
Huntington Disease
prenatal diagnosis
Chondrodysplasia PunctataReveal score
#2
Cynthia * * ***** (Reveal full name)
Genetic Medicine, University of California, San Francisco/Fr
Also Ranks for:
Chondrodysplasia Punctata
Intellectual Disability
Mental Retardation
Congenital Abnormalities
pregnancy loss
Chondrodysplasia PunctataReveal score
#3
Jürgen * ******** (Reveal full name)
Sinzheim, Deutschland | Greenwood Genetic Center, Greenwood,
Also Ranks for:
Chondrodysplasia Punctata
Kniest Dysplasia
Short Stature
Stickler Syndrome
osteogenesis imperfecta
Chondrodysplasia PunctataReveal score
#4
Christine * **** (Reveal full name)
St. George's University of London | Emeritus Professor of Pa
Also Ranks for:
Crouzon Syndrome
Chondrodysplasia Punctata
Hall Type
Fibroblast Growth Factor
cervical spine
Chondrodysplasia PunctataReveal score
#5
Johanna ** ******** (Reveal full name)
Department of Pediatrics, Academic Medical Centre, Universit
Also Ranks for:
Chondrodysplasia Punctata
Piezogenic Papules
Connective Tissue Disorders
Rhizomelic Type
marfan syndrome
Chondrodysplasia PunctataReveal score
#6
Ruud * * ********* (Reveal full name)
Departments of Clinical Chemistry,, NL | Department for Clin
Also Ranks for:
Prenatal Diagnosis
Chondrodysplasia Punctata
Fatty Acids
Zellweger Syndrome
peroxisomal disorders
Chondrodysplasia PunctataReveal score
#7
Ronald * * ******* (Reveal full name)
Laboratory Genetic Metabolic Diseases, Department of Clinica
Also Ranks for:
Zellweger Syndrome
Chondrodysplasia Punctata
Refsum Disease
Peroxisomal Disorders
phytanic acid
Chondrodysplasia PunctataReveal score
#8
Cassandra **** (Reveal full name)
McKusick-Nathans Institute of Genetic Medicine, Predoctoral
Also Ranks for:
Gyrate Atrophy
Extracellular Stimuli
Chondrodysplasia Punctata
Simian Virus
peroxisome proliferation
Chondrodysplasia PunctataReveal score
#9
Paul *** (Reveal full name)
Howard Hughes Medical Institute, The Johns Hopkins Universit
Also Ranks for:
Mutation Analysis
Chondrodysplasia Punctata
Pex7 Gene
Alternative Transcripts
frequent rcdp allele
Chondrodysplasia PunctataReveal score
#10
R * * ******* (Reveal full name)
Laboratory Genetic Metabolic Diseases, Department of Clinica
Also Ranks for:
Prenatal Diagnosis
Chondrodysplasia Punctata
Phytanic Acid
Zellweger Syndrome
peroxisomal disorders
Chondrodysplasia PunctataReveal score
#11
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
Chondrodysplasia PunctataReveal score
#12
U ****** (Reveal full name)
Department of Pediatrics, University of Kiel, Germany
Also Ranks for:
Skin 28
Newborn Ossification
Height Bone
Chondrodysplasia Punctata
chondrodystrophia calcificans
Chondrodysplasia PunctataReveal score
#13
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
Chondrodysplasia PunctataReveal score
#14
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
Chondrodysplasia PunctataReveal score
#15
Joseph * ****** (Reveal full name)
Reproductive Endocrinology Unit and Perinatal Center, Depart
Also Ranks for:
Pregnancy Outcome
Short Arm Chromosome
Deletion Xp
Habitual Adult
chondrodysplasia punctata
Chondrodysplasia PunctataReveal score
#16
Nancy ***** ********* (Reveal full name)
McGill University | Department of Pediatrics, McGill Univers
Also Ranks for:
Peroxisome Biogenesis
Zellweger Spectrum
Intracranial Hemorrhage
Cerebellar Atrophy
chondrodysplasia punctata
Chondrodysplasia PunctataReveal score
#17
Loris ******* (Reveal full name)
Clinical Genomics Lab, European Institute of Oncology IRCCS,
Also Ranks for:
Brca2 Mutation Carriers
Brca1 Genes
Tumor Brca Test
Chondrodysplasia Punctata
breast cancer
Chondrodysplasia PunctataReveal score
#18
Lucille * ********** (Reveal full name)
Melbourne, Australia
Also Ranks for:
Mild Cases
Chondrodysplasia Punctata
Typical Facies
Anticonvulsants Pregnancy
paternal age
Chondrodysplasia PunctataReveal score
#19
Peter ********** (Reveal full name)
Department of Medical Genetics, University of British Columb
Also Ranks for:
Short Arm Chromosome
Deletion Xp
Chondrodysplasia Punctata
Telomeric Repeat
intrachromosomal location
Chondrodysplasia PunctataReveal score
#20
Ann * ***** (Reveal full name)
Department of Neurology, John Hopkins University, 21287, Bal
Also Ranks for:
Fatty Acids
Newborn Screening
Peroxisomal Disorders
Phytanic Acid
zellweger syndrome
Chondrodysplasia PunctataReveal score
#21
G * ***** (Reveal full name)
Department of Paediatrics, University Hospital Amsterdam, Me
Also Ranks for:
Bile Acids
Peroxisomal Abnormalities
Mild Variant
Chondrodysplasia Punctata
zellweger syndrome
Chondrodysplasia PunctataReveal score
#22
R ****** (Reveal full name)
Department of Dermatology, Medical Center – University of Fr
Also Ranks for:
Phacomatosis Pigmentokeratotica
Griscelli Disease
Therapeutische Immunreaktionen
Alopecia Areata
chondrodysplasia punctata
Chondrodysplasia PunctataReveal score
#23
Hartmut ****** (Reveal full name)
University Children's Hospital, Mainz, Germany | Children's
Also Ranks for:
Warfarin Embryopathy
Somatic Mosaicism
Stickler Phenotype
Claw Hands
kniest dysplasia
Chondrodysplasia PunctataReveal score
#24
HUGO * ***** (Reveal full name)
The Once Upon a Time Foundation Professorship in Pediatric N
Also Ranks for:
Neonatal Adrenoleukodystrophy
Prenatal Diagnosis
Peroxisomal Disorders
Fatty Acids
rett syndrome
Chondrodysplasia PunctataReveal score
#25
Pierre ********* (Reveal full name)
Departments of Clinical Genetics and Diagnostic Radiology, U
Also Ranks for:
Fibroblast Growth Factor
Desbuquois Dysplasia
Osteogenesis Imperfecta
Gel Electrophoresis
thanatophoric dwarfism
Chondrodysplasia PunctataReveal score
#26
Richard * ***** (Reveal full name)
Department of Pediatrics, University of Wisconsin School of
Also Ranks for:
Vertebral Malformations
Charge Association
Trisomy 17 Mosaicism
Foramen Magnum
stillborn infants
Chondrodysplasia PunctataReveal score
#27
Andrea ******** (Reveal full name)
Istituto Telethon di Genetica e Medicina (TIGEM), Pozzuoli,
Also Ranks for:
Kallmann Syndrome
Lysosomal Biogenesis
Ocular Albinism
Transcription Factors
pompe disease
Chondrodysplasia PunctataReveal score
#28
David * ***** (Reveal full name)
McKusick-Nathans Department of Genetic Medicine, Johns Hopki
Also Ranks for:
Mendelian Genomics
Proline Oxidase
Amino Acid
Peroxisome Biogenesis
gyrate atrophy
Chondrodysplasia PunctataReveal score
#29
David * ***** (Reveal full name)
The Murdoch Institute, Royal Children's Hospital, Melbourne,
Also Ranks for:
Dihydropteridine Reductase
Copper Metabolism
Mottled Mouse Mutants
Menkes Disease
phenylalanine hydroxylase
Chondrodysplasia PunctataReveal score
#30
Valerie ***** (Reveal full name)
Victorian Clinical Genetics Service, Murdoch Institute, Roya
Also Ranks for:
Respiratory Distress
Inherited Defect
Sanfilippo Syndrome
Radiological Findings
pseudoachondroplastic dysplasia
Chondrodysplasia PunctataReveal score
#31
JUDITH ****** **** (Reveal full name)
Department of Medical Genetics and Pediatrics, University of
Also Ranks for:
Neural Tube Defects
Congenital Contractures
Genomic Imprinting
Noonan Syndrome
prenatal diagnosis
Chondrodysplasia PunctataReveal score
#32
Hugo * * ******* (Reveal full name)
Department of Paediatrics, Emma Children's Hospital, Amsterd
Also Ranks for:
Coeliac Disease
Zellweger Syndrome
Peroxisomal Disorders
Intestinal Permeability
atopic dermatitis
Chondrodysplasia PunctataReveal score
#33
Joseph * ***** (Reveal full name)
E.C. Slater Institute, University of Amsterdam, Plantage Mui
Also Ranks for:
Gaucher Disease
Peroxisomal Disorders
Liver Mitochondria
Monoclonal Antibodies
zellweger syndrome
Chondrodysplasia PunctataReveal score
#34
Richard * ****** (Reveal full name)
From the Departments of Neurology (C.L.S.-H., S.G., J.B.E.,
Also Ranks for:
Cholesterol Biosynthesis
Rsh Slos
Amniotic Fluid
Prenatal Diagnosis
barth syndrome
Chondrodysplasia PunctataReveal score
#35
Thuluvancheri * ******** (Reveal full name)
Department of Pathology, Dartmouth Medical School Lebanon, N
Also Ranks for:
Short Arm
Situ Hybridization
Hybrid Cells
Chromosomal Localization
human chromosome
Chondrodysplasia PunctataReveal score
#36
R ***** ***** ******* (Reveal full name)
Department of Genetics, Oregon Health Science University, Po
Also Ranks for:
Human Pair
Angelman Syndrome
Parental Origin
Extra Chromosome
situ hybridization
Chondrodysplasia PunctataReveal score
#37
Michael ***** (Reveal full name)
Infectious diseases, University College London Hospital, 235
Also Ranks for:
Problem List
Orogenic Belts
Regional Metamorphism
Colorectal Cancer
gilead sciences
Chondrodysplasia PunctataReveal score
#38
Christine ***** (Reveal full name)
Collège de France, 75005, Paris, France | Institut de l'Audi
Also Ranks for:
Hair Cells
Usher Syndrome
Hearing Loss
Pseudoautosomal Region
myosin viia
Chondrodysplasia PunctataReveal score
#39
David * ****** (Reveal full name)
BioMarin Pharmaceutical Inc., Novato, California (D.J.W., M.
Also Ranks for:
Prenatal Diagnosis
Medical Genetics
Short Stature
Skeletal Dysplasias
kniest dysplasia
Chondrodysplasia PunctataReveal score
#40
Jacqueline ********** (Reveal full name)
Unité de Génétique et Physiologie de l'Audition, Institut Pa
Also Ranks for:
Pseudoautosomal Region
Albumin Gene
Dominant Form
Neurite Growth
kallmann syndrome
Chondrodysplasia PunctataReveal score
#41
Rudolf ****** (Reveal full name)
Department of Dermatology, Medical Center - University of Fr
Also Ranks for:
Topical Immunotherapy
Phacomatosis Pigmentokeratotica
Hair Growth
Alopecia Areata
child syndrome
Chondrodysplasia PunctataReveal score
#42
Gudrun **** ******* (Reveal full name)
Institute of Human Genetics, University of Heidelberg, Heide
Also Ranks for:
Situ Hybridization
Pseudoautosomal Region
Turner Syndrome
Intellectual Disability
short stature
Chondrodysplasia PunctataReveal score
#43
Germana ****** (Reveal full name)
Department of Life Sciences, University of Trieste, 34127 Tr
Also Ranks for:
Trim Proteins
Ibgc1 Locus
Pompe Disease
Opitz Syndrome
tripartite motif
Chondrodysplasia PunctataReveal score
#44
Henk *** *** ***** (Reveal full name)
Centre for Biomembranes and Lipid Enzymology, Department Bio
Also Ranks for:
Zellweger Syndrome
Mesangial Cells
Peroxisomal Disorders
Rat Liver
fatty acids
Chondrodysplasia PunctataReveal score
#45
Brunella ****** (Reveal full name)
Genomic Medicine, TIGEM-Telethon Institute of Genetics and M
Also Ranks for:
Primary Cilia
Mental Retardation
Ofd1 Gene
Kallmann Syndrome
situ hybridization
Chondrodysplasia PunctataReveal score
#46
Sahar ******* (Reveal full name)
St. George's University of London | South West Thames Region
Also Ranks for:
Milroy Disease
Campomelic Dysplasia
Developmental Disorders
Primary Lymphedema
fetal hydrops
Chondrodysplasia PunctataReveal score
#47
Andrew * ********* (Reveal full name)
Department of Medical Imaging, The Children's Memorial Hospi
Also Ranks for:
Newborn Infant
Carpal Angle
Winchester Syndrome
Pediatric Case
joint disease
Chondrodysplasia PunctataReveal score
#48
Helga * ******** (Reveal full name)
Department of Pediatrics/Human Development, Michigan State U
Also Ranks for:
Spina Bifida
Medical Genetics
Genetic Counseling
Neural Tube Defects
publication abnormalities
Chondrodysplasia PunctataReveal score
#49
Paul * ******* (Reveal full name)
Institut Pasteur, Paris, France | CNRS URA 2582, Paris, Fran
Also Ranks for:
Peroxisomal Proteins
Peroxisome Biogenesis
Rat Liver
Human Catalase
zellweger syndrome
Chondrodysplasia PunctataReveal score
#50
Peter ******** ******* (Reveal full name)
UCL GOS Institute of Child Health, University College, Londo
Also Ranks for:
Inborn Errors
Congenital Disorders
Bile Acid
Mass Spectrometry
pnpo deficiency
Chondrodysplasia PunctataReveal score