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Characterization of a de novo sSMC 17 detected in a girl with developmental delay and dysmorphic features (2017)

Stavber, Lana [Verfasser] ; Bertok, Sara [Sonstige] ; Kovac, Jernej [Sonstige] ; [et al.]

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UID:

(DE-101)112984305X

Format: Online-Ressource , online resource.

ISSN: 1755-8166 , 1755-8166

In: volume:10

In: number:1

In: day:23

In: month:3

In: year:2017

In: pages:1-6

In: date:12.2017

In: Molecular cytogenetics, London : BioMed Central, 2008-, 10, Heft 1 (23.3.2017), 1-6, 12.2017, 1755-8166

Language: English

DOI: 10.1186/s13039-017-0312-x

URN: urn:nbn:de:1111-201704132131

URL: https://doi.org/10.1186/s13039-017-0312-x

URL: https://nbn-resolving.org/urn:nbn:de:1111-201704132131

URL: https://d-nb.info/112984305X/34

URL: http://dx.doi.org/10.1186/s13039-017-0312-x

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2

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Microduplication in the 2p16.1p15 chromosomal region linked to developmental delay and intellectual disability (2018)

Lovrecic, Luca [Verfasser] ; Gnan, Chiara [Sonstige] ; Baldan, Federica [Sonstige] ; [et al.]

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UID:

(DE-101)1165860201

Format: Online-Ressource , online resource.

ISSN: 1755-8166 , 1755-8166

In: volume:11

In: number:1

In: day:20

In: month:6

In: year:2018

In: pages:1-6

In: date:12.2018

In: Molecular cytogenetics, London : BioMed Central, 2008-, 11, Heft 1 (20.6.2018), 1-6, 12.2018, 1755-8166

Language: English

DOI: 10.1186/s13039-018-0388-y

URN: urn:nbn:de:101:1-2018083023062954259308

URL: https://doi.org/10.1186/s13039-018-0388-y

URL: https://nbn-resolving.org/urn:nbn:de:101:1-2018083023062954259308

URL: https://d-nb.info/1165860201/34

URL: http://dx.doi.org/10.1186/s13039-018-0388-y

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Diagnostic efficacy and new variants in isolated and complex autism spectrum disorder using molecular karyotyping (2018)

Lovrečić, Luca [Verfasser] ; Rajar, Polona [Sonstige] ; Volk, Marija [Sonstige] ; [et al.]

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UID:

(DE-101)1161333045

Format: Online-Ressource , online resource.

ISSN: 2190-3883 , 2190-3883

In: volume:59

In: number:2

In: day:21

In: month:3

In: year:2018

In: pages:179-185

In: date:5.2018

In: Journal of applied genetics, Dordrecht {[u.a.] : Springer, 1996-, 59, Heft 2 (21.3.2018), 179-185, 5.2018, 2190-3883

Language: English

DOI: 10.1007/s13353-018-0440-y

URN: urn:nbn:de:101:1-2018061722460858413750

URL: https://doi.org/10.1007/s13353-018-0440-y

URL: https://nbn-resolving.org/urn:nbn:de:101:1-2018061722460858413750

URL: https://d-nb.info/1161333045/34

URL: http://dx.doi.org/10.1007/s13353-018-0440-y

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Challenges in establishing optimal pediatric palliative care at the university hospital in Slovenia (2023)

Meglič, Jakob [Verfasser] ; Lisec, Ajda [Verfasser] ; Lepej, Dušanka [Verfasser] ; [et al.]

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UID:

(DE-101)1298393221

Format: Online-Ressource , online resource.

In: volume:182

In: number:3

In: day:21

In: month:1

In: year:2023

In: pages:1393-1401

In: date:3.2023

In: Zeitschrift für Kinderheilkunde, Berlin ; Heidelberg : Springer, 1910-1975, 182, Heft 3 (21.1.2023), 1393-1401, 3.2023

Language: English

DOI: 10.1007/s00431-023-04806-7

URN: urn:nbn:de:101:1-2023080521065565759769

URL: https://doi.org/10.1007/s00431-023-04806-7

URL: https://nbn-resolving.org/urn:nbn:de:101:1-2023080521065565759769

URL: https://d-nb.info/1298393221/34

URL: https://doi.org/10.1007/s00431-023-04806-7

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Tracking of the origin of recurrent mutations of the BRCA1 and BRCA2 genes in the North-East of Italy and improved mutation analysis strategy (2016)

Cini, Giulia [Verfasser] ; Mezzavilla, Massimo [Sonstige] ; Della Puppa, Lara [Sonstige] ; [et al.]

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UID:

(DE-101)1146585799

Format: Online-Ressource , online resource.

ISSN: 1471-2350 , 1471-2350

In: volume:17

In: number:1

In: day:6

In: month:2

In: year:2016

In: pages:1-13

In: date:12.2016

In: BMC medical genetics, London : BioMed Central, 2000-, 17, Heft 1 (6.2.2016), 1-13, 12.2016, 1471-2350

Language: English

DOI: 10.1186/s12881-016-0274-6

URN: urn:nbn:de:1111-20171126227

URL: https://doi.org/10.1186/s12881-016-0274-6

URL: https://nbn-resolving.org/urn:nbn:de:1111-20171126227

URL: https://d-nb.info/1146585799/34

URL: http://dx.doi.org/10.1186/s12881-016-0274-6

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Recurrent Fulminant Myocarditis Repeatedly Treated with Ecmo in a Child (2019)

Vercek, Gregor [Sonstige] ; Markelj, Gasper [Sonstige] ; Mlakar, Gorazd [Sonstige] ; [et al.]

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UID:

(DE-101)1186722371

Format: Online-Ressource

ISSN: 1439-3824

In: volume:231

In: number:02

In: year:2019

In: pages:80-86

In: Klinische Pädiatrie, Stuttgart : Thieme, 1980-, 231, Heft 02 (2019), 80-86, 1439-3824

Language: German

DOI: 10.1055/a-0831-2593

URN: urn:nbn:de:101:1-2019052110115247289664

URL: https://doi.org/10.1055/a-0831-2593

URL: https://nbn-resolving.org/urn:nbn:de:101:1-2019052110115247289664

URL: https://d-nb.info/1186722371/34

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