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01000naa a22002652 4500 |
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NLM251762645 |
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DE-627 |
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20231224162714.0 |
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tu |
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231224s2014 xx ||||| 00| ||eng c |
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|a pubmed24n0839.xml
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|a (DE-627)NLM251762645
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|a (NLM)26266004
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|a DE-627
|b ger
|c DE-627
|e rakwb
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| 041 |
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|a eng
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| 100 |
1 |
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|a Vascone, Carmine
|e verfasserin
|4 aut
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| 245 |
1 |
0 |
|a Antenatal diagnosis of Seckel Syndrome
|b a rare case report
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| 264 |
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1 |
|c 2014
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| 336 |
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|a Text
|b txt
|2 rdacontent
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| 337 |
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|a ohne Hilfsmittel zu benutzen
|b n
|2 rdamedia
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| 338 |
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|a Band
|b nc
|2 rdacarrier
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| 500 |
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|a Date Completed 12.08.2015
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|a Date Revised 29.09.2020
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|a published: Print
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|a Citation Status PubMed-not-MEDLINE
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|a INTRODUCTION: Seckel Syndrome is a rare autosomal recessive disorder characterized by dwarfism, microcephaly and the absence of visceral malformations
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| 520 |
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|a CASE REPORT: we observed sonographic features of a Seckel Syndrome, in a patient during the 24th week of pregnancy. Her family history was negative for malformation and chromosomal disorders. The diagnosis was later confirmed by molecular tests
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|a CONCLUSION: diagnosis should be made only by expert operators. Karyotype analysis is essential to confirm the diagnosis
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4 |
|a Case Reports
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4 |
|a Seckel Syndrome
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| 650 |
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4 |
|a bird-headed appearance
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| 650 |
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4 |
|a dwarfism
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| 650 |
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4 |
|a microcephaly
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| 650 |
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4 |
|a prenatal diagnosis
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| 650 |
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4 |
|a ultrasound
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| 700 |
1 |
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|a Di Meglio, Filippo
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Di Meglio, Letizia
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Turco, Luigi Carlo Lo
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Vitale, Salvatore Giovanni
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Cignini, Pietro
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Marilli, Ilaria
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Rapisarda, Agnese Maria Chiara
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Valenti, Gaetano
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Cianci, Stefano
|e verfasserin
|4 aut
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| 773 |
0 |
8 |
|i Enthalten in
|t Journal of prenatal medicine
|d 2007
|g 8(2014), 3-4 vom: 05. Apr., Seite 70-2
|w (DE-627)NLM216403898
|x 1971-3282
|7 nnns
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| 773 |
1 |
8 |
|g volume:8
|g year:2014
|g number:3-4
|g day:05
|g month:04
|g pages:70-2
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| 912 |
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|a GBV_USEFLAG_A
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| 912 |
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|a SYSFLAG_A
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| 912 |
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|a GBV_NLM
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| 912 |
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|a GBV_ILN_11
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| 912 |
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|a GBV_ILN_31
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| 912 |
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|a GBV_ILN_40
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|a GBV_ILN_350
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|a AR
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| 952 |
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|d 8
|j 2014
|e 3-4
|b 05
|c 04
|h 70-2
|