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51

Postmortem findings and prenatal diagnosis of Zellweger syndrome

A. LINDHARD, N. GRÆM, F. SKOVBY, D. JEPPESEN

Journal:

Year:

1993

Language:

english

File:

PDF, 913 KB

english, 1993

52

Detection and exclusion of carriers of ornithine transcarbamylase deficiency by RFLP analysis

M. Schwartz, Ernst Christensen, Niels C. Christensen, Flemming Skovby, Kay E. Davies, John M. Old

Journal:

Clinical Genetics

Year:

1986

Language:

english

File:

PDF, 271 KB

english, 1986

53

Variable clinical expression in a family with OI type IV due to deletion of three base pairs in COL1A1

Allan M. Lund, Marianne Schwartz, Flemming Skovby

Journal:

Clinical Genetics

Year:

1996

Language:

english

File:

PDF, 812 KB

english, 1996

54

Psychological and social impact of carrier screening for cystic fibrosis among pregnant women — a pilot study

Hans Clausen, Niels Jacob Brandt, Marianne Schwartz, Flemming Skovby

Journal:

Clinical Genetics

Year:

1996

Language:

english

File:

PDF, 528 KB

english, 1996

55

Fine Mapping of the Gene for Carbohydrate-Deficient Glycoprotein Syndrome, Type I (CDG1): Linkage Disequilibrium and Founder Effect in Scandinavian Families

Cecilia Bjursell, Helena Stibler, Jan Wahlström, Bengt Kristiansson, Flemming Skovby, Petter Strömme, Gösta Blennow, Tommy Martinsson

Journal:

Year:

1997

Language:

english

File:

PDF, 148 KB

english, 1997

56

Genetic and Metabolic Analysis of the First Adult with Congenital Disorder of Glycosylation Type Ib: Long-Term Outcome and Effects of Mannose Supplementation

Vibeke Westphal, Susanne Kjaergaard, Joseph A. Davis, Sandra M. Peterson, Flemming Skovby, Hudson H. Freeze

Journal:

Molecular Genetics and Metabolism

Year:

2001

Language:

english

File:

PDF, 139 KB

english, 2001

57

Transmitted cytogenetic abnormalities in patients with mental retardation: Pathogenic or normal variants?

Anne-Marie Bisgaard, Maria Kirchhoff, Jens Erik Nielsen, Carsten Brandt, Hanne Hove, Birgit Jepsen, Tim Jensen, Reinhard Ullmann, Flemming Skovby

Journal:

European Journal of Medical Genetics

Year:

2007

Language:

english

File:

PDF, 399 KB

english, 2007

58

A revisit to the natural history of homocystinuria due to cystathionine β-synthase deficiency

Flemming Skovby, Mette Gaustadnes, S. Harvey Mudd

Journal:

Molecular Genetics and Metabolism

Year:

2010

Language:

english

File:

PDF, 141 KB

english, 2010

59

OPA3, mutated in 3-methylglutaconic aciduria type III, encodes two transcripts targeted primarily to mitochondria

Marjan Huizing, Heidi Dorward, Lien Ly, Enriko Klootwijk, Robert Kleta, Flemming Skovby, Wuhong Pei, Benjamin Feldman, William A. Gahl, Yair Anikster

Journal:

Molecular Genetics and Metabolism

Year:

2010

Language:

english

File:

PDF, 2.53 MB

english, 2010

60

Early manifestations of the carbohydrate-deficient glycoprotein syndrome

Minna B. Petersen, Karin Brostrøm, Helena Stibler, Flemming Skovby

Journal:

The Journal of Pediatrics

Year:

1993

Language:

english

File:

PDF, 567 KB

english, 1993

61

Ventricular tachycardia in a Brugada syndrome patient caused by a novel deletion in SCN5A

Jacob Tfelt-Hansen, Thomas Jespersen, Jacob Hofman-Bang, Hanne Borger Rasmussen, Pernille Cedergreen, Flemming Skovby, Hugues Abriel, Jesper Hastrup Svendsen, Soren-Peter Olesen, Michael Christiansen,

Journal:

Canadian Journal of Cardiology

Year:

2009

File:

PDF, 1008 KB

2009

62

3-Methylglutaconic aciduria type III in a non-Iraqi-Jewish kindred: clinical and molecular findings

Robert Kleta, Flemming Skovby, Ernst Christensen, Thomas Rosenberg, William A Gahl, Yair Anikster

Journal:

Molecular Genetics and Metabolism

Year:

2002

Language:

english

File:

PDF, 452 KB

english, 2002

63

High Incidence of Propionic Acidemia in Greenland Is Due to a Prevalent Mutation, 1540insCCC, in the Gene for the β-Subunit of Propionyl CoA Carboxylase

Kirstine Ravn, Maja Chloupkova, Ernst Christensen, Niels Jacob Brandt, Henrik Simonsen, Jan P. Kraus, Inge Merete Nielsen, Flemming Skovby, Marianne Schwartz

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 116 KB

english, 2000

64

Deletion of a Gly-Pro-Pro repeat in the proα2(I) chain of procollagen I in a family with dominant osteogenesis imperfecta type IV

Allan M. Lund,Flemming Skovby,Marianne Schwartz

Journal:

Year:

1996

Language:

english

File:

PDF, 657 KB

english, 1996

65

Failure to diagnose carbohydrate-deficient glycoprotein syndrome prenatally

Helena Stibler, Flemming Skovby

Journal:

Pediatric Neurology

Year:

1994

Language:

english

File:

PDF, 107 KB

english, 1994

66

The phenotypic variability of diastrophic dysplasia

William A. Horton, David L. Rimoin, Ralph S. Lachman, Flemming Skovby, David W. Hollister, Jurgen Spranger, Charles I. Scott, Judith G. Hall

Journal:

The Journal of Pediatrics

Year:

1978

Language:

english

File:

PDF, 355 KB

english, 1978

67

Hypophosphatemic rickets in linear sebaceous nevus sequence

Flemming Skovby, Else Svejgaard, Jørn Møller

Journal:

The Journal of Pediatrics

Year:

1987

Language:

english

File:

PDF, 1.48 MB

english, 1987

68

Nomenclature: Additional chromosome bands

Flemming Skovby

Journal:

Clinical Genetics

Year:

1975

Language:

english

File:

PDF, 640 KB

english, 1975

69

Separation of Enantiomers by Continuous Preferential Crystallization: Experimental Realization Using a Coupled Crystallizer Configuration

Chaaban, Joussef Hussein, Dam-Johansen, Kim, Skovby, Tommy, Kiil, Søren

Journal:

Organic Process Research & Development

Year:

2013

Language:

english

File:

PDF, 3.15 MB

english, 2013

70

Cerebellar hypoplasia in children with the carbohydrate-deficient glycoprotein syndrome

P. R. Jensen, F. J. Hansen, F. Skovby

Journal:

Year:

1995

Language:

english

File:

PDF, 655 KB

english, 1995

71

Full-Scale Continuous Mini-Reactor Setup for Heterogeneous Grignard Alkylation of a Pharmaceutical Intermediate

Pedersen, Michael J., Holm, Thomas L., Rahbek, Jesper P., Skovby, Tommy, Mealy, Michael J., Dam-Johansen, Kim, Kiil, Søren

Journal:

Organic Process Research & Development

Year:

2013

Language:

english

File:

PDF, 3.82 MB

english, 2013

72

Monitoring and Control of a Continuous Grignard Reaction for the Synthesis of an Active Pharmaceutical Ingredient Intermediate Using Inline NIR spectroscopy

Cervera-Padrell, Albert E., Nielsen, Jesper P., Jønch Pedersen, Michael, Müller Christensen, Kim, Mortensen, Asmus R., Skovby, Tommy, Dam-Johansen, Kim, Kiil, Søren, Gernaey, Krist V.

Journal:

Organic Process Research & Development

Year:

2012

Language:

english

File:

PDF, 3.40 MB

english, 2012

73

Separation of Enantiomers by Preferential Crystallization: Mathematical Modeling of a Coupled Crystallizer Configuration

Chaaban, Joussef Hussein, Dam-Johansen, Kim, Skovby, Tommy, Kiil, Søren

Journal:

Organic Process Research & Development

Year:

2014

Language:

english

File:

PDF, 527 KB

english, 2014

74

Copper Deficiency in Patients with Cystinosis with Cysteamine Toxicity

Besouw, Martine T.P., Schneider, Jerry, Janssen, Mirian C., Greco, Marcella, Emma, Francesco, Cornelissen, Elisabeth A., Desmet, Koen, Skovby, Flemming, Nobili, François, Lilien, Marc R., De Paepe, An

Journal:

The Journal of Pediatrics

Year:

2013

Language:

english

File:

PDF, 495 KB

english, 2013

75

Pemphigus foliaceus and proteinuria induced by α-mercaptopropionylglycine

Lucky, Paul A., Skovby, Flemming, Thier, Samuel O.

Journal:

Journal of the American Academy of Dermatology

Year:

1983

Language:

english

File:

PDF, 1.56 MB

english, 1983

76

No need to change the skin knife in modern arthroplasty surgery

Ottesen, C., Skovby, A., Troelsen, A., Specht, C., Friis-Møller, A., Husted, H.

Journal:

Archives of Orthopaedic and Trauma Surgery

Year:

2014

Language:

english

File:

PDF, 178 KB

english, 2014

77

Continuous Hydrolysis and Liquid–Liquid Phase Separation of an Active Pharmaceutical Ingredient Intermediate Using a Miniscale Hydrophobic Membrane Separator

Cervera-Padrell, Albert E., Morthensen, Sofie T., Lewandowski, Daniel J., Skovby, Tommy, Kiil, Søren, Gernaey, Krist V.

Journal:

Organic Process Research & Development

Year:

2012

Language:

english

File:

PDF, 2.04 MB

english, 2012

78

Penetrance of Hypertrophic Cardiomyopathy in Children and Adolescents: A 12-Year Follow-up Study of Clinical Screening and Predictive Genetic Testing

Jensen, M. K., Havndrup, O., Christiansen, M., Andersen, P. S., Diness, B., Axelsson, A., Skovby, F., Kober, L., Bundgaard, H.

Journal:

Year:

2013

Language:

english

File:

PDF, 1.34 MB

english, 2013

79

Screening for familial hypercholesterolaemia by measurement of apolipoproteins in capillary blood.

Skovby, F, Micic, S, Jepsen, B, Larsen, S O, Hansen, B, Tegllund, L, Pedersen, B N

Journal:

Archives of Disease in Childhood

Year:

1991

Language:

english

File:

PDF, 764 KB

english, 1991

80

Anthropometry of patients with osteogenesis imperfecta

Lund, A. M, Muller, J., Skovby, F.

Journal:

Archives of Disease in Childhood

Year:

1999

Language:

english

File:

PDF, 218 KB

english, 1999

81

DVL1 Frameshift Mutations Clustering in the Penultimate Exon Cause Autosomal-Dominant Robinow Syndrome

White, Janson, Mazzeu, Juliana F., Hoischen, Alexander, Jhangiani, Shalini N., Gambin, Tomasz, Alcino, Michele Calijorne, Penney, Samantha, Saraiva, Jorge M., Hove, Hanne, Skovby, Flemming, Kayserili,

Journal:

The American Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 953 KB

english, 2015

82

Phenotypic variability in 49 cases of ESCO2 mutations, including novel missense and codon deletion in the acetyltransferase domain, correlates with ESCO2 expression and establishes the clinical criteria for Roberts syndrome

Vega, H., Trainer, A. H., Gordillo, M., Crosier, M., Kayserili, H., Skovby, F., Uzielli, M. L. G., Schnur, R. E., Manouvrier, S., Blair, E., Hurst, J. A., Forzano, F., Meins, M., Simola, K. O. J., Raa

Journal:

Journal of Medical Genetics

Year:

2010

Language:

english

File:

PDF, 6.36 MB

english, 2010

83

Winter wheat cultivars and nitrogen (N) fertilization—Effects on root growth, N uptake efficiency and N use efficiency

Rasmussen, Irene Skovby, Dresbøll, Dorte Bodin, Thorup-Kristensen, Kristian

Journal:

European Journal of Agronomy

Year:

2015

Language:

english

File:

PDF, 650 KB

english, 2015

84

The molecular mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase activity

Gordillo, M., Vega, H., Trainer, A. H., Hou, F., Sakai, N., Luque, R., Kayserili, H., Basaran, S., Skovby, F., Hennekam, R. C. M., Uzielli, M. L. G., Schnur, R. E., Manouvrier, S., Chang, S., Blair, E

Journal:

Human Molecular Genetics

Year:

2008

Language:

english

File:

PDF, 404 KB

english, 2008

85

Bone mineral content and collagen defects in osteogenesis imperfecta

Lund, AM, Mølgaard, C., Müller, J., Skovby, F.

Journal:

Acta Paediatrica

Year:

1999

Language:

english

File:

PDF, 165 KB

english, 1999

86

Abnormal synthesis of dolichol-linked oligosaccharides in carbohydrate-deficient glycoprotein syndrome

Krasnewich, Donna M., Holt, Gordon D., Brantly, Mark, Skovby, Flemming, Redwine, Jeff, Gahl, William A.

Journal:

Year:

1995

Language:

english

File:

PDF, 1.86 MB

english, 1995

87

Implementation of Near-Infrared Spectroscopy for In-Line Monitoring of a Dehydration Reaction in a Tubular Laminar Reactor

Mitic, Aleksandar, Cervera-Padrell, Albert E., Mortensen, Asmus R., Skovby, Tommy, Dam-Johansen, Kim, Javakhishvili, Irakli, Hvilsted, Søren, Gernaey, Krist V.

Journal:

Organic Process Research & Development

Year:

2015

Language:

english

File:

PDF, 1.22 MB

english, 2015

88

FGFR3 Mutations and the Skin: Report of a Patient with a FGFR3 Gene Mutation, Acanthosis Nigricans, Hypochondroplasia and Hyperinsulinemia and Review of the Literature

Blomberg, M., Jeppesen, E.M., Skovby, F., Benfeldt, E.

Journal:

Year:

2010

Language:

english

File:

PDF, 490 KB

english, 2010

89

Inborn Errors of Metabolism Causing Homocysteinemia and Related Vascular Involvement

Skovby, Flemming

Journal:

Pathophysiology of Haemostasis and Thrombosis

Year:

1989

File:

PDF, 1.82 MB

1989

90

Germ-line CAG repeat instability causes extreme CAG repeat expansion with infantile-onset spinocerebellar ataxia type 2

Vinther-Jensen, Tua, Ek, Jakob, Duno, Morten, Skovby, Flemming, Hjermind, Lena E, Nielsen, Jørgen E, Nielsen, Troels Tolstrup

Journal:

European Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 701 KB

english, 2013

91

Lethal Autosomal Recessive Arthrogryposis Multiplex Congenita with Whistling Face and Calcifications of the Nervous System

Illum, N., Reske-Nielsen, Edith, Skovby, F., Askjær, S., Bernsen, Alice

Journal:

Neuropediatrics

Year:

1988

Language:

english

File:

PDF, 913 KB

english, 1988

92

The significance of litter loss and root growth on nitrogen efficiency in normal and semi-dwarf winter oilseed rape genotypes

Dresbøll, Dorte Bodin, Rasmussen, Irene Skovby, Thorup-Kristensen, Kristian

Journal:

Field Crops Research

Year:

2016

Language:

english

File:

PDF, 1.08 MB

english, 2016

93

Gonosomal mosaicism for an NF1 deletion in a sperm donor: evidence of the need for coordinated, long-term communication of health information among relevant parties

Callum, P., Messiaen, L. M., Bower, P. V., Skovby, F., Iger, J., Timshel, S., Sims, C. A., Falk, R. E.

Journal:

Human Reproduction

Year:

2012

Language:

english

File:

PDF, 111 KB

english, 2012

94

A RANDOMIZED, DOUBLE-BLIND, PLACEBO-CONTROLLED, MULTI-CENTER, CROSS-OVER STUDY OF ROSUVASTATIN IN CHILDREN AND ADOLESCENTS (AGED 6 TO

Stein, Evan A., Dann, Eldad J., Wiegman, Albert, Skovby, Flemming, Gaudet, Daniel, Sokal, Etienne, Charng, Min-Ji, Mohamed, Mafauzy, Carlsson, Stefan, Raichlen, Joel, Kastelein, John

Journal:

Journal of the American College of Cardiology

Year:

2016

Language:

english

File:

PDF, 342 KB

english, 2016

95

The Danish 22q11 research initiative

Schmock, Henriette, Vangkilde, Anders, Larsen, Kit Melissa, Fischer, Elvira, Birknow, Michelle Rosgaard, Jepsen, Jens Richardt Møllegaard, Olesen, Charlotte, Skovby, Flemming, Plessen, Kerstin Jessica

Journal:

Year:

2015

Language:

english

File:

PDF, 542 KB

english, 2015

96

Acceleration of Anti-Markovnikov Hydroamination in the Synthesis of an Active Pharmaceutical Ingredient

Mitic, Aleksandar, Skovby, Tommy, Dam-Johansen, Kim, Gernaey, Krist V.

Journal:

Chemical Engineering & Technology

Year:

2016

Language:

english

File:

PDF, 968 KB

english, 2016

97

Kognitive og emotionelle forandringer hos klienter i metadonvedligeholdelsesbehandling

AAGESEN, NIELS SKOVBY

Journal:

Nordisk Psykologi

Year:

2005

File:

PDF, 929 KB

2005

98

Family-centred care and traumatic symptoms in parents of children admitted to PICU

Mortensen, Jesper, Simonsen, Birgitte Olesen, Eriksen, Sara Bek, Skovby, Pernille, Dall, Rolf, Elklit, Ask

Journal:

Scandinavian Journal of Caring Sciences

Year:

2015

Language:

english

File:

PDF, 75 KB

english, 2015

99

Clinical presentations of 23 half-siblings from a mosaic neurofibromatosis type 1 sperm donor

Ejerskov, C., Farholt, S., Skovby, F., Vestergaard, E.M., Haagerup, A.

Journal:

Clinical Genetics

Year:

2016

Language:

english

File:

PDF, 118 KB

english, 2016

100

Does earlier sowing of winter wheat improve root growth and N uptake?

Rasmussen, Irene Skovby, Thorup-Kristensen, Kristian

Journal:

Field Crops Research

Year:

2016

Language:

english

File:

PDF, 867 KB

english, 2016