Journal: Clinical dysmorphology - British Library Electronic Legal Deposit Catalogue-Journal Issues and Articles Search Results

Journal Clinical dysmorphology

1. 16p13.11-p12.3 Microdeletion identified in a patient with sagittal craniosynostosis and developmental delay. Issue 4 (October 2019)

Authors:: Maldžienė, Živilė; Bulanovaitė, Elena; Aleksiūnienė, Beata; Utkus, Algirdas; Preiksaitiene, Egle
Journal:: Clinical dysmorphology
Issue:: Volume 28:Issue 4(2019:Oct.)
Page Start:
Record Type:: Journal Article
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2. 3MC syndrome: molecular findings in previously reported and milder patients expand the natural history and phenotypic spectrum. Issue 1 (28th November 2022)

Authors:: Ashton, Chloe Jade; Perveen, Rahat; Beaman, Glenda; Crisponi, Giangiorgio; González-Del Angel, Ariadna; Garza-Mayén, Gilda; Alcántara-Ortigoza, Miguel Angel; O'Sullivan, James; Clayton-Smith, Jill
Journal:: Clinical dysmorphology
Issue:: Volume 32:Issue 1(2023)
Page Start:: 7
Record Type:: Journal Article
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3. 3p14p12 deletion syndrome: report of a new case providing further evidence of a clinically recognizable syndrome. Issue 4 (October 2016)

Authors:: Johnson, Katie; Yates, Katherine; Martin, Katherine; Suri, Mohnish
Journal:: Clinical dysmorphology
Issue:: Volume 25:Issue 4(2016:Oct.)
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Record Type:: Journal Article
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4. 3q27.3 Microdeletion syndrome: further delineation of the second region of overlap and atopic dermatitis as a phenotypic feature. Issue 3 (July 2017)

Authors:: Jewell, Rosalyn; Eng, Bennett; Coates, Andrea; Hewitt, Sarah; Hobson, Emma
Journal:: Clinical dysmorphology
Issue:: Volume 26:Issue 3(2017:Jul.)
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Record Type:: Journal Article
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5. 3q29 Chromosomal duplication in a neonate with associated myelomeningocele and midline cranial defects. Issue 4 (October 2017)

Authors:: Lawrence, Marley B.; Arreola, Alexandra; Cools, Michael; Elton, Scott; Wood, Karen S.
Journal:: Clinical dysmorphology
Issue:: Volume 26:Issue 4(2017:Oct.)
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Record Type:: Journal Article
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6. 6p21.33 Deletion encompassing CSNK2B is associated with relative macrocephaly, facial dysmorphism, and mild intellectual disability. Issue 3 (19th March 2021)

Authors:: Ohashi, Ikuko; Kuroda, Yukiko; Enomoto, Yumi; Murakami, Hiroaki; Masuno, Mitsuo; Kurosawa, Kenji
Journal:: Clinical dysmorphology
Issue:: Volume 30:Issue 3(2021)
Page Start:: 139
Record Type:: Journal Article
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7. 8p23.2p22 deletion: a case report of a large deletion encompassing 8p23.1 with additional clinical features. Issue 4 (October 2020)

Authors:: LaBranche, Jennifer T.N.; Argiropoulos, Bob; Thomas, Mary Ann
Journal:: Clinical dysmorphology
Issue:: Volume 29:Issue 4(2020:Oct.)
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Record Type:: Journal Article
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8. A boy with dysmorphic features, intellectual disability, and biallelic homozygous deletion in NRXN1. Issue 2 (April 2015)

Authors:: Holmquist, Peter
Journal:: Clinical dysmorphology
Issue:: Volume 24:Issue 2(2015:Apr.)
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Record Type:: Journal Article
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9. A boy with dysmorphic features, intellectual disability, and biallelic homozygous deletion in NRXN1. Issue 2 (April 2015)

Authors:: Holmquist, Peter
Journal:: Clinical dysmorphology
Issue:: Volume 24:Issue 2(2015:Apr.)
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Record Type:: Journal Article
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10. A case of diencephalic syndrome presenting with isolated lipodystrophy. Issue 4 (October 2018)

Authors:: McDermott, John H.; Harris, Julie; Fédée, Joanne; Skae, Mars; Semple, Robert; Douzgou, Sofia
Journal:: Clinical dysmorphology
Issue:: Volume 27:Issue 4(2018:Oct.)
Page Start:
Record Type:: Journal Article
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