Association between a common missense variant in LOXL3 gene and the risk of non ‐syndromic cleft palate
Congenital Anomalies, EarlyView. (Source: Congenital Anomalies)
Source: Congenital Anomalies - June 11, 2018 Category: Genetics & Stem Cells Authors: Mohammad Faisal J.
Khan
,
Julian
Little
,
Peter A.
Mossey
,
R égine P.M.
Steegers‐Theunissen
,
Martina
Bonsi
,
Rita
Bassi Andreasi
,
Michele
Rubini Source Type: research
Novel mutation in EFCAB7 alters expression and interaction of Ellis –van Creveld ciliary proteins
Congenital Anomalies, EarlyView. (Source: Congenital Anomalies)
Source: Congenital Anomalies - June 8, 2018 Category: Genetics & Stem Cells Authors: Tran Quynh Nhu
Nguyen
,
Nguyen Minh Thien
Doan
,
Huu Tung
Trinh
,
Masashi
Mizuguchi Source Type: research
Effects of the Y ‐chromosome and the dominant hemimelia mutation on the morphology of the mouse mandible
Congenital Anomalies, EarlyView. (Source: Congenital Anomalies)
Source: Congenital Anomalies - May 28, 2018 Category: Genetics & Stem Cells Authors: Jun ‐ichi
Suto Source Type: research
Survival in double aneuploidy involving trisomy 18 and sex chromosome trisomy: A case report of a 27 ‐month‐old child and a review of the literature
Congenital Anomalies, EarlyView. (Source: Congenital Anomalies)
Source: Congenital Anomalies - May 22, 2018 Category: Genetics & Stem Cells Authors: Takahide
Watabe
,
Hiroshi
Koga Source Type: research
Investigation of maxillofacial morphology and oral characteristics with Turner syndrome and early mixed dentition
Congenital Anomalies, EarlyView. (Source: Congenital Anomalies)
Source: Congenital Anomalies - May 17, 2018 Category: Genetics & Stem Cells Authors: Nozomi
Ahiko
,
Yoshiyuki
Baba
,
Michiko
Tsuji
,
Reiko
Horikawa
,
Keiji
Moriyama Source Type: research
Further evidence for causation of ischiospinal dysostosis by a pathogenic variant in BMPER and expansion of the phenotype
Congenital Anomalies, EarlyView. (Source: Congenital Anomalies)
Source: Congenital Anomalies - May 16, 2018 Category: Genetics & Stem Cells Authors: Smrithi
Salian
,
Sheela
Nampoothiri
,
Anju
Shukla
,
Katta M.
Girisha Source Type: research
Morphological development of baculum and forelimb second ‐to‐fourth digit ratio in mice
Congenital Anomalies, EarlyView. (Source: Congenital Anomalies)
Source: Congenital Anomalies - May 7, 2018 Category: Genetics & Stem Cells Authors: Minami
Fuse
,
Kazuhiko
Sawada Source Type: research
Developmental toxicity of flucytosine following administration to pregnant rats at a specific time point of organogenesis
Congenital Anomalies, EarlyView. (Source: Congenital Anomalies)
Source: Congenital Anomalies - May 3, 2018 Category: Genetics & Stem Cells Authors: Sakiko
Fujii
,
Kaoru
Yabe
,
Yuki
Kariwano ‐Kimura
,
Masatoshi
Furukawa
,
Kouta
Itoh
,
Masao
Matsuura
,
Masao
Horimoto Source Type: research
Issue Information
Congenital Anomalies,Volume 58, Issue 3, Page 79-81, May 2018. (Source: Congenital Anomalies)
Source: Congenital Anomalies - May 2, 2018 Category: Genetics & Stem Cells Source Type: research
XPC gene mutations in families with xeroderma pigmentosum from Pakistan; prevalent founder effect
Congenital Anomalies, EarlyView. (Source: Congenital Anomalies)
Source: Congenital Anomalies - April 15, 2018 Category: Genetics & Stem Cells Authors: Ambreen
Ijaz
,
Sulman
Basit
,
Ajab
Gul
,
Lilas
Batool
,
Abrar
Hussain
,
Sibtain
Afzal
,
Khushnooda
Ramzan
,
Jamil
Ahmad
,
Abdul
Wali Source Type: research
Multiplex PCR in noninvasive prenatal diagnosis for FGFR3 ‐related disorders
Congenital Anomalies, EarlyView. (Source: Congenital Anomalies)
Source: Congenital Anomalies - April 15, 2018 Category: Genetics & Stem Cells Authors: Sumire
Terasawa
,
Asuka
Kato
,
Haruki
Nishizawa
,
Takema
Kato
,
Hikari
Yoshizawa
,
Yoshiteru
Noda
,
Jun
Miyazaki
,
Mayuko
Ito
,
Takao
Sekiya
,
Takuma
Fujii
,
Hiroki
Kurahashi Source Type: research
Spinal muscular atrophy with respiratory distress type 1 associated with novel compound heterozygous mutations in IGHMBP2: Differential diagnosis in a case with congenital diaphragm eventration
Congenital Anomalies, EarlyView. (Source: Congenital Anomalies)
Source: Congenital Anomalies - April 7, 2018 Category: Genetics & Stem Cells Authors: Yoshitomo
Yasui
,
Hitoshi
Sato
,
Yo
Niida
,
Miyuki
Kohno Source Type: research
Familial campomelic dysplasia due to maternal germinal mosaicism
Congenital Anomalies, EarlyView. (Source: Congenital Anomalies)
Source: Congenital Anomalies - April 2, 2018 Category: Genetics & Stem Cells Source Type: research
Evaluation of a patient with classical Ehlers ‐Danlos syndrome due to a 9q34 duplication affecting COL5A1
Congenital Anomalies, EarlyView. (Source: Congenital Anomalies)
Source: Congenital Anomalies - March 25, 2018 Category: Genetics & Stem Cells Source Type: research
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Congenital Anomalies, Ahead of Print. (Source: Congenital Anomalies)
Source: Congenital Anomalies - March 25, 2018 Category: Genetics & Stem Cells Source Type: research
