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1 . Academic Journal
B3GAT3-related linkeropathy and an in-frame homozygous deletion in an adult patient
저자
by
Bolund, Anneli C.S.
;
Langdahl, Bente
;
Laurberg, Trine B.
;
Hellfritzsch, Michel B.
;
Gjørup, Hans
, et al.
소스
In
European Journal of Medical Genetics
December 2021 64(12)
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7 . Academic Journal
A novel homoplasmic mt-tRNAGlu m.14701C>T variant presenting with a partially reversible infantile respiratory chain deficiency
저자
by
Lundquist, Alberte A.
;
Farholt, Stense
;
Børresen, Malene L.
;
Dunø, Morten
;
Wibrand, Flemming
, et al.
소스
In
European Journal of Medical Genetics
October 2021 64(10)
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7 . Academic Journal
Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort
저자
by
van der Sluijs, Pleuntje J.
;
Joosten, Marieke
;
Alby, Caroline
;
Attié-Bitach, Tania
;
Gilmore, Kelly
, et al.
소스
In
Genetics in Medicine
February 2023 25(2)
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7 . Academic Journal
Zoledronate Increases Bone Mineral Density in Nonambulant Children With Cerebral Palsy: A Randomized Controlled Trial.
저자
by
Granild-Jensen, Jakob Bie
;
Møller-Madsen, Bjarne
;
Rackauskaite, Gija
;
Farholt, Stense
;
Søndergaard, Charlotte
, et al.
소스
Journal of Clinical Endocrinology & Metabolism; Nov2023, Vol. 108 Issue 11, p2840-2851, 12p
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7 . Academic Journal
Glucose homeostasis in adults with Prader–Willi syndrome during treatment with growth hormone: Results from a 12-month prospective study
저자
by
Jørgensen, Anders Palmstrøm
;
Ueland, Thor
;
Sode-Carlsen, Rasmus
;
Schreiner, Thomas
;
Rabben, Kai Fredrik
, et al.
소스
In
Growth Hormone & IGF Research
February 2014 24(1):16-21
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7 . Academic Journal
Growth hormone treatment for two years is safe and effective in adults with Prader-Willi syndrome
저자
by
Sode-Carlsen, Rasmus
;
Farholt, Stense
;
Rabben, Kai Fr.
;
Bollerslev, Jens
;
Schreiner, Thomas
, et al.
소스
In
Growth Hormone & IGF Research
August 2011 21(4):185-190
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7 . Academic Journal
Cerebral palsy and bisphosphonates – and what can be learned from other types of secondary osteoporosis in children: A scoping review.
저자
by
Granild‐Jensen, Jakob B.
;
Pedersen, Line K.
;
Langdahl, Bente
;
Starup‐Linde, Jakob
;
Rackauskaite, Gija
, et al.
소스
Acta Paediatrica
. Apr2023, Vol. 112 Issue 4, p617-629. 13p.
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7 . Academic Journal
Clinical Characteristics and Management of Children and Adults with Neurofibromatosis Type 1 and Plexiform Neurofibromas in Denmark: A Nationwide Study.
저자
by
Ejerskov, Cecilie
;
Farholt, Stense
;
Nielsen, Flemming Secher Kromann
;
Berg, Ingunn
;
Thomasen, Stine Bogetofte
, et al.
소스
Oncology & Therapy; Mar2023, Vol. 11 Issue 1, p97-110, 14p
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7 . Academic Journal
Fracture Rates in Children with Cerebral Palsy: A Danish, Nationwide Register-Based Study.
저자
by
Granild-Jensen, Jakob Bie
;
Pedersen, Alma Becic
;
Kristiansen, Eskild Bendix
;
Langdahl, Bente
;
Møller-Madsen, Bjarne
, et al.
소스
Clinical Epidemiology; Nov2022, Vol. 14, p1405-1414, 10p
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7 . Periodical
Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature
저자
by
Peluso, Francesca
;
Caraffi, Stefano G
;
Contrò, Gianluca
;
Valeri, Lara
;
Napoli, Manuela
, et al.
소스
Journal of Medical Genetics (JMG); 2023, Vol. 60 Issue: 12 p1224-1234, 11p
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