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Volume 9; Issue 4
Main
Molecular Syndromology
Volume 9; Issue 4
Molecular Syndromology
Volume 9; Issue 4
1
A New Case of a Rare Combination of Temple Syndrome and Mosaic Trisomy 14 and a Literature Review
Yakoreva, Maria
,
Kahre, Tiina
,
Pajusalu, Sander
,
Ilisson, Piret
,
Žilina, Olga
,
Tillmann, Vallo
,
Reimand, Tiia
,
Õunap, Katrin
Journal:
Molecular Syndromology
Year:
2018
Language:
english
File:
PDF, 1.60 MB
Your tags:
english, 2018
2
A New 3p14.2 Microdeletion in a Patient with Intellectual Disability and Language Impairment: Case Report and Review of the Literature
Parmeggiani, Giulia
,
Buldrini, Barbara
,
Fini, Sergio
,
Ferlini, Alessandra
,
Bigoni, Stefania
Journal:
Molecular Syndromology
Year:
2018
Language:
english
File:
PDF, 1.14 MB
Your tags:
english, 2018
3
A Pure 2-Mb 3q26.2 Duplication Proximal to the Critical Region of 3q Duplication Syndrome
Coelho Molck, Miriam
,
Simioni, Milena
,
Paiva Vieira, Társis
,
Paoli Monteiro, Fabíola
,
Gil-da-Silva-Lopes, Vera L.
Journal:
Molecular Syndromology
Year:
2018
Language:
english
File:
PDF, 1.28 MB
Your tags:
english, 2018
4
Cardiac Fibroma with Ventricular Tachycardia: An Unusual Clinical Presentation of Nevoid Basal Cell Carcinoma Syndrome
Ritter, Alyssa L.
,
Granquist, Eric J.
,
Iyer, V. Ramesh
,
Izumi, Kosuke
Journal:
Molecular Syndromology
Year:
2018
Language:
english
File:
PDF, 873 KB
Your tags:
english, 2018
5
Syndromes Hidden within the 16p11.2 Deletion Region
Poot, Martin
Journal:
Molecular Syndromology
Year:
2018
Language:
english
File:
PDF, 590 KB
Your tags:
english, 2018
6
Biallelic WRN Mutations in Newly Identified Japanese Werner Syndrome Patients
Maezawa, Yoshiro
,
Kato, Hisaya
,
Takemoto, Minoru
,
Watanabe, Aki
,
Koshizaka, Masaya
,
Ishikawa, Takahiro
,
Sargolzaeiaval, Forough
,
Kuzuya, Masafumi
,
Wakabayashi, Hiroshi
,
Kusaka, Takashi
,
Yokote, Koutar
Journal:
Molecular Syndromology
Year:
2018
Language:
english
File:
PDF, 695 KB
Your tags:
english, 2018
7
Two Consecutive Pregnancies with Simpson-Golabi-Behmel Syndrome Type 1: Case Report and Review of Published Prenatal Cases
Ridnõi, Konstantin
,
Kurvinen, Elvira
,
Pajusalu, Sander
,
Reimand, Tiia
,
Õunap, Katrin
Journal:
Molecular Syndromology
Year:
2018
Language:
english
File:
PDF, 1.94 MB
Your tags:
english, 2018
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