Sequence Variants in the EDAR Gene Causing Hypohidrotic Ectodermal Dysplasia
Congenital Anomalies,Volume 0, Issue ja, -Not available-. (Source: Congenital Anomalies)
Source: Congenital Anomalies - August 6, 2018 Category: Genetics & Stem Cells Authors: Farooq
Ahmad
,
Tanveer
Ahmad
,
Muhammad
Umair
,
Abdullah
,
Wasim
Ahmad Source Type: research
Early prenatal detection of Bardet ‐Biedl syndrome in a case with postaxial polydactyly and hyperechoic kidneys confirmed by next generation sequencing
Congenital Anomalies,Volume 0, Issue ja, -Not available-. (Source: Congenital Anomalies)
Source: Congenital Anomalies - August 3, 2018 Category: Genetics & Stem Cells Authors: Qiao ‐Yi
Li
,
Lv‐Ying
Huang
,
Dong‐Zhi
Li Source Type: research
Congenital eye anomalies: More mosaic than thought?
Congenital Anomalies,Volume 0, Issue ja, -Not available-. (Source: Congenital Anomalies)
Source: Congenital Anomalies - July 24, 2018 Category: Genetics & Stem Cells Authors: Hideyo
Ohuchi
,
Keita
Sato
,
Munenori
Habuta
,
Fujita
Hirofumi
,
Tetsuya
Bando Source Type: research
Long ‐term natural history of an adult patient with distal 22q11.2 deletion from low copy repeat‐D to E
Congenital Anomalies, EarlyView. (Source: Congenital Anomalies)
Source: Congenital Anomalies - July 18, 2018 Category: Genetics & Stem Cells Authors: Mari
Matsuo
,
Toshiyuki
Yamamoto
,
Kayoko
Saito Source Type: research
Potentially effective method for fetal gender determination by noninvasive prenatal testing for X ‐linked disease
Congenital Anomalies, EarlyView. (Source: Congenital Anomalies)
Source: Congenital Anomalies - July 6, 2018 Category: Genetics & Stem Cells Authors: Yoshiteru
Noda
,
Takema
Kato
,
Asuka
Kato
,
Haruki
Nishizawa
,
Jun
Miyazaki
,
Mayuko
Ito
,
Sumire
Terasawa
,
Takao
Sekiya
,
Takuma
Fujii
,
Hiroki
Kurahashi Source Type: research
17q21.32 ‐q22 Deletion in a girl with osteogenesis imperfecta, tricho‐dento‐osseous syndrome, and intellectual disability
Congenital Anomalies, EarlyView. (Source: Congenital Anomalies)
Source: Congenital Anomalies - July 4, 2018 Category: Genetics & Stem Cells Authors: Takayuki
Yokoi
,
Toshiyuki
Saito
,
Jun ‐ichi
Nagai
,
Kenji
Kurosawa Source Type: research
Issue Information
Congenital Anomalies,Volume 58, Issue 4, Page 109-111, July 2018. (Source: Congenital Anomalies)
Source: Congenital Anomalies - July 4, 2018 Category: Genetics & Stem Cells Source Type: research
Announcement
Congenital Anomalies,Volume 58, Issue 4, Page 148-148, July 2018. (Source: Congenital Anomalies)
Source: Congenital Anomalies - July 4, 2018 Category: Genetics & Stem Cells Source Type: research
Identification and association of recurrent ALOXE3 mutation with non ‐bullous congenital ichthyosiform erythroderma in two ethnically distinct Pakistani families
Congenital Anomalies,Volume 0, Issue ja, -Not available-. (Source: Congenital Anomalies)
Source: Congenital Anomalies - June 23, 2018 Category: Genetics & Stem Cells Authors: Simeen Ber
Rahman
,
Asif
Mir
,
Nafees
Ahmad
,
Syed Husnain
Haider
,
Salman Akbar
Malik
,
Muhammad
Nasir Source Type: research
Long ‐term natural history of an adult patient with distal 22q11.2 deletion from LCR‐D to E
Congenital Anomalies,Volume 0, Issue ja, -Not available-. (Source: Congenital Anomalies)
Source: Congenital Anomalies - June 21, 2018 Category: Genetics & Stem Cells Authors: Mari
Matsuo
,
Toshiyuki
Yamamoto
,
Kayoko
Saito Source Type: research
Potentially effective method for fetal gender determination by non ‐invasive prenatal testing for X‐linked disease
Congenital Anomalies,Volume 0, Issue ja, -Not available-. (Source: Congenital Anomalies)
Source: Congenital Anomalies - June 21, 2018 Category: Genetics & Stem Cells Authors: Yoshiteru
Noda
,
Takema
Kato
,
Asuka
Kato
,
Haruki
Nishizawa
,
Jun
Miyazaki
,
Mayuko
Ito
,
Sumire
Terasawa
,
Takao
Sekiya
,
Takuma
Fujii
,
Hiroki
Kurahashi Source Type: research
Rare urogenital anomaly variant with a separated didelphic uterus and ipsilateral renal agenesis without hemivagina: A case report
Congenital Anomalies, EarlyView. (Source: Congenital Anomalies)
Source: Congenital Anomalies - June 20, 2018 Category: Genetics & Stem Cells Authors: Norikazu
Watanabe
,
Hideki
Igarashi
,
Jun
Matsukawa
,
Koki
Matsuo
,
Satoru
Nagase Source Type: research
Novel compound heterozygous and homozygous variants of laminin subunit β3 gene underlie non‐Herlitz junctional epidermolysis bullosa in two paternal half‐brothers from Saudi Arabia
Congenital Anomalies,Volume 0, Issue ja, -Not available-. (Source: Congenital Anomalies)
Source: Congenital Anomalies - June 14, 2018 Category: Genetics & Stem Cells Authors: Hams Saeed
Al ‐Zahrani
,
Saeed
Al‐Tala
,
Hussein Shaikh Ali
Mohamoud
,
Bandar Ali
Al‐Shehri
,
Saeed
Al‐Fadhel
,
Ali
Al‐Qurashi
,
Ahmad
Al‐Bishri
,
Jumana Yousuf
Al‐Aama
,
Changsoo
Kang
,
Regina C.
Betz
, Source Type: research
Preconception folic acid supplementation use and the occurrence of neural tube defects in Japan: A nationwide birth cohort study of the Japan Environment and Children ’s Study
Congenital Anomalies,Volume 0, Issue ja, -Not available-. (Source: Congenital Anomalies)
Source: Congenital Anomalies - June 14, 2018 Category: Genetics & Stem Cells Authors: Hidekazu
Nishigori
,
Taku
Obara
,
Toshie
Nishigori
,
Mami
Ishikuro
,
Kasumi
Sakurai
,
Tetsuro
Hoshiai
,
Masatoshi
Saito
,
Ikuma
Fujiwara
,
Takahiro
Arima
,
Kunihiko
Nakai
,
Shinichi
Kuriyama
,
Nariyasu
Mano
, Source Type: research
17q21.32 ‐q22 Deletion in a Girl with Osteogenesis Imperfecta, Tricho–Dento–Osseous Syndrome, and Intellectual Disability
Congenital Anomalies,Volume 0, Issue ja, -Not available-. (Source: Congenital Anomalies)
Source: Congenital Anomalies - June 13, 2018 Category: Genetics & Stem Cells Authors: Takayuki
Yokoi
,
Toshiyuki
Saito
,
Jun ‐ichi
Nagai
,
Kenji
Kurosawa Source Type: research