books search
books
articles search
articles
Donate
Log In
Log In
to access more features
personal recommendations
Telegram Bot
download history
send to Email or Kindle
manage booklists
save to favorites
Explore
Journals
Contribution
Donate
Litera Library
Donate paper books
Add paper books
Open LITERA Point
Volume 17; Issue 1
Main
Clinical Dysmorphology
Volume 17; Issue 1
Clinical Dysmorphology
Volume 17; Issue 1
1
Rhizomelia with anal atresia and anophthalmia: a new syndrome?
Özlem, Giray
,
Elçin, Bora
,
Ayfer, Ulgenalp
,
Oguz, Ateş
,
Erdener, Özer
,
Derya, Erçal
Journal:
Clinical Dysmorphology
Year:
2008
Language:
english
File:
PDF, 167 KB
Your tags:
english, 2008
2
Sudden death in a patient with mosaic ring X Turner syndrome and a neuronal migration disorder
Longman, Cheryl
,
MacKenzie, James
,
Rankin, Rosslyn
,
McEntagart, Meriel
,
Johnson, Richard
,
Al-Hilaly, Nasser
,
Atkinson, Patricia
Journal:
Clinical Dysmorphology
Year:
2008
Language:
english
File:
PDF, 202 KB
Your tags:
english, 2008
3
Maternal heterodisomy/isodisomy and paternal supernumerary ring of chromosome 7 in a child with Silver–Russell syndrome
Combi, Romina
,
Sala, Elena
,
Villa, Nicoletta
,
Crosti, Francesca
,
Beccaria, Luciano
,
Cogliardi, Anna
,
Tenchini, Maria L.
,
Dalprà, Leda
Journal:
Clinical Dysmorphology
Year:
2008
Language:
english
File:
PDF, 146 KB
Your tags:
english, 2008
4
The fetal mycophenolate mofetil syndrome
Velinov, Milen
,
Zellers, Nancy
Journal:
Clinical Dysmorphology
Year:
2008
Language:
english
File:
PDF, 129 KB
Your tags:
english, 2008
5
Phenotypic variation in trismus-pseudocamptodactyly syndrome caused by a recurrent MYH8 mutation
Minzer-Conzetti, Karen
,
Wu, Erica
,
Vargervik, Karin
,
Slavotinek, Anne
Journal:
Clinical Dysmorphology
Year:
2008
Language:
english
File:
PDF, 126 KB
Your tags:
english, 2008
6
Progressive noninfectious anterior vertebral fusion in a girl with axial mesodermal dysplasia spectrum
Al Kaissi, Ali
,
Grill, Franz
,
Alexander, Krebs
,
Varga, Franz
,
Klaushofer, Klaus
Journal:
Clinical Dysmorphology
Year:
2008
Language:
english
File:
PDF, 187 KB
Your tags:
english, 2008
7
Fetal megalourethra associated with hypoplastic left heart and imperforate anus: a previously unreported association
Gandhi, Saurabh V.
,
Cohen, Marta
,
Sprigg, Alan
,
Roberts, Lawrence
,
Anumba, Dilly O.C.
Journal:
Clinical Dysmorphology
Year:
2008
Language:
english
File:
PDF, 230 KB
Your tags:
english, 2008
8
First case reported of Turner syndrome and trisomy 14 chromosomal mosaicism in a patient
Becerra-Solano, Luis E.
,
Arnaud-Lopez, Lisette
,
Diaz-Rodriguez, Manuel
,
Mantilla-Capacho, Johana M.
,
Nastasi-Catanese, Jose A.
,
Ortiz-Aranda, Martha
,
Vasquez, Ana I.
,
Figuera, Luis E.
Journal:
Clinical Dysmorphology
Year:
2008
Language:
english
File:
PDF, 162 KB
Your tags:
english, 2008
9
Agnathia-otocephaly complex in a fetus with maternal use of topical 1% salicylate
Khan, Aneal
,
Bourgeois, Jacqueline
,
Mohide, Patrick
Journal:
Clinical Dysmorphology
Year:
2008
Language:
english
File:
PDF, 71 KB
Your tags:
english, 2008
10
A patient with de-novo partial deletion of Xp (p11.4–pter) and partial duplication of 22q (q11.2–qter)
Armour, Christine M.
,
McGowan-Jordan, Jean
,
Lawrence, Sarah E.
,
Bouchard, Amélie
,
Basik, Mark
,
Allanson, Judith E.
Journal:
Clinical Dysmorphology
Year:
2008
Language:
english
File:
PDF, 129 KB
Your tags:
english, 2008
11
De-novo balanced translocation between 7q31 and 10p14 in a girl with central precocious puberty, moderate mental retardation, and severe speech impairment
Kosho, Tomoki
,
Sakazume, Satoru
,
Kawame, Hiroshi
,
Wakui, Keiko
,
Wada, Takahito
,
Okoshi, Yumi
,
Mikawa, Makoto
,
Hasegawa, Tomonobu
,
Matsuura, Nobuo
,
Niikawa, Norio
,
Matsumoto, Naomichi
,
Fukushima, Yoshi
Journal:
Clinical Dysmorphology
Year:
2008
Language:
english
File:
PDF, 152 KB
Your tags:
english, 2008
12
Recombination of a maternal pericentric inversion results in 22q13 deletion syndrome
Tagaya, Mitsuhiko
,
Mizuno, Seiji
,
Hayakawa, Masahiro
,
Yokotsuka, Taro
,
Shimizu, Satoko
,
Fujimaki, Hidehiko
Journal:
Clinical Dysmorphology
Year:
2008
Language:
english
File:
PDF, 126 KB
Your tags:
english, 2008
13
Congenital partial lipodystrophy: a new variety with previously undescribed clinical features
Salim, Firas A.
,
Bawazir, Omar A.
Journal:
Clinical Dysmorphology
Year:
2008
Language:
english
File:
PDF, 199 KB
Your tags:
english, 2008
14
Holoprosencephaly spectrum, ano/microphthalmia, and first branchial arch defects: evidence for a new disorder
Guion-Almeida, Maria Leine
,
Richieri-Costa, Antonio
,
Zechi-Ceide, Roseli Maria
Journal:
Clinical Dysmorphology
Year:
2008
Language:
english
File:
PDF, 369 KB
Your tags:
english, 2008
15
Three siblings with Woodhouse–Sakati syndrome in an Indian family
Koshy, George
,
Danda, Sumita
,
Thomas, Nihal
,
Mathews, Vikram
,
Viswanathan, Vijay
Journal:
Clinical Dysmorphology
Year:
2008
Language:
english
File:
PDF, 220 KB
Your tags:
english, 2008
16
Expanding the phenotype of 22q11 deletion syndrome: the MURCS association
Uliana, Vera
,
Giordano, Nicola
,
Caselli, Rossella
,
Papa, Filomena Tiziana
,
Ariani, Francesca
,
Marcocci, Claudio
,
Gianetti, Elena
,
Martini, Giuseppe
,
Papakostas, Panagiotis
,
Rollo, Fabio
,
Meloni, Ilari
Journal:
Clinical Dysmorphology
Year:
2008
Language:
english
File:
PDF, 234 KB
Your tags:
english, 2008
17
A mutation in FGFR2 in a child with Pfeiffer syndrome and a sacral appendage
Lai, Angeline H.M.
,
Tan, Yuen-Ming
,
Law, Hai-Yang
,
Yeow, Vincent K.L.
Journal:
Clinical Dysmorphology
Year:
2008
Language:
english
File:
PDF, 98 KB
Your tags:
english, 2008
18
Screening for subtelomeric chromosome alteration in a consecutive series of newborns with congenital defects
Rodríguez, Laura
,
Martínez-Fernández, María Luisa
,
Mansilla, Elena
,
Mendioroz, Jacobo
,
Arteaga, Rosa María
,
Toral, Joaquín Fernández
,
Guardia, Nieves Martínez
,
García, Angel
,
Centeno, Fernando
,
Pantoj
Journal:
Clinical Dysmorphology
Year:
2008
Language:
english
File:
PDF, 248 KB
Your tags:
english, 2008
1
Follow
this link
or find "@BotFather" bot on Telegram
2
Send /newbot command
3
Specify a name for your chatbot
4
Choose a username for the bot
5
Copy an entire last message from BotFather and paste it here
×
×