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1PURA(Purine-rich-element-binding-protein-A)-Syndrom als seltene Ursache einer Entwicklungsstörung
I. Fazekas,T. Neuhann,L. Schweigerer
Monatsschrift Kinderheilkunde.2020;()
[DOI]
2Congenital Hypotonia in Toddlerhood
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Journal of Developmental & Behavioral Pediatrics.2017;38(7)556
[DOI]
3Awareness screening and referral patterns among pediatricians in the United States related to early clinical features of spinal muscular atrophy (SMA)
Mary Curry,Rosángel Cruz,Lisa Belter,Mary Schroth,Megan Lenz,Jill Jarecki
BMC Pediatrics.2021;21(1)556
[DOI]
4Novel compound heterozygous TTN variants as a cause of severe neonatal congenital contracture syndrome without cardiac involvement diagnosed with rapid trio exome sequencing
Helen McDermott,Amy Henderson,Hannah K. Robinson,Richard Heaver,Chrisantha Halahakoon,Helen Cox,Swati Naik
Neuromuscular Disorders.2021;31(8)783
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5Novel compound heterozygous TTN variants as a cause of severe neonatal congenital contracture syndrome without cardiac involvement diagnosed with rapid trio exome sequencing
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Neuromuscular Disorders.2020;31(8)71
[DOI]
6Hypotonia at Birth: A Case Study of ACTA-1 Mutation, a Congenital Myopathy
Laurie Gelardi
Neonatal Network.2018;37(4)212
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7Hypotonia at Birth: A Case Study of ACTA-1 Mutation, a Congenital Myopathy
Ranjith Kamity
Neonatal Network.2019;37(4)171
[DOI]
8Diagnostic approach of floppy infants
Hadeer Abdel Ghaffar,Heba ElAwady,Ihab Abouleinin,Eslam Rabie
Middle East Journal of Medical Genetics.2017;6(2)70
[DOI]
9Floppy neonate with feeding difficulties
Niraj Kumar Dipak,Shilpa Pandya,Omkar Hajirnis,Baliram Pandurang Munde
Archives of disease in childhood - Education & practice edition.2019;104(3)160
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10A critical appraisal of tools for delivery room assessment of the newborn infant
Mara Niemuth,Helmut Küster,Burkhard Simma,Henry Rozycki,Mario Rüdiger,Anne Lee Solevĺg,Inmaculada Lara-Cantón,Shiraz Badurdeen,Janneke Dekker,Peter Davis,Calum Roberts,Arjan te Pas,Máximo Vento,Marieke den Boer,Heidi Meredith Herrick,Mario Rüdiger,Maxi Kaufmann,Heidi Aichner,Samir Gupta,Willem deBoode,Charles Christoph Roehr,Britt Nakstad,Stuart Hooper,Natalie Batey,Caroline Henry,Shalabh Garg,Michael Wagner,Michel Valstar,Thomas Smith,Don Sharkey,Anne Lee Solevĺg
Pediatric Research.2021;104(3)160
[DOI]
11Nerve Biopsy Is Still Useful in Some Inherited Neuropathies
Mathilde Duchesne,Stéphane Mathis,Laurence Richard,Corinne Magdelaine,Philippe Corcia,Sonia Nouioua,Meriem Tazir,Laurent Magy,Jean-Michel Vallat
Journal of Neuropathology & Experimental Neurology.2018;77(2)88
[DOI]
12How to use: creatine kinase
Tanmoy Chakrabarty,Sandya Tirupathi,Andrew Thompson
Archives of disease in childhood - Education & practice edition.2020;105(3)157
[DOI]
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