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1
14q32.3 deletion syndrome with autism
Dergi Makalesi

Dergi Makalesi
Kaynak :
Wiley Online Library
Yayıncı :
American Journal of Medical Genetics Part A
Yazar(lar) :
J. Lawrence Merritt , Syed M. Jalal , William J. Barbaresi , Dusica Babovic-Vuksanovic
Konu :
Genetics(clinical), Genetics
Yıl :
2005
American Journal of Medical Genetics Part A
Yayıncı Web Sitesi Tam Metin
Kaydet
DOI : 10.1002/ajmg.a.30462
ISSN: 1552-4825
Sayı: 1
Cilt: 133A
Sayfa: 99-100
2
Clinical variability in KBG syndrome: Report of three unrelated families
Dergi Makalesi

Dergi Makalesi
Kaynak :
Wiley Online Library
Yayıncı :
American Journal of Medical Genetics Part A
Yazar(lar) :
Gustavo Henrique Boff Maegawa , Júlio Cesar Loguercio Leite , Têmis Maria Félix , Heraldo Luís Dias da Silveira , Heloísa Emília da Silveira
Konu :
Genetics(clinical), Genetics
Yıl :
2004
American Journal of Medical Genetics Part A
Yayıncı Web Sitesi Tam Metin
Kaydet
DOI : 10.1002/ajmg.a.30293
ISSN: 1552-4825
Sayı: 2
Cilt: 131A
Sayfa: 150-154
3
Novel and recurrent exon 13 mutations ofCOMPin pseudoachondroplasia
Dergi Makalesi

Dergi Makalesi
Kaynak :
Wiley Online Library
Yayıncı :
American Journal of Medical Genetics Part A
Yazar(lar) :
Eiji Nakashima , Akihiko Mabuchi , Mitsuru Kubota , Satoshi Ishikiriyama , Hirofumi Ohashi , Gen Nishimura , Shiro Ikegawa
Konu :
Genetics(clinical), Genetics
Yıl :
2005
American Journal of Medical Genetics Part A
Yayıncı Web Sitesi Tam Metin
Kaydet
DOI : 10.1002/ajmg.a.30348
ISSN: 1552-4825
Sayı: 1
Cilt: 132A
Sayfa: 108-109
4
Horseshoe kidney and a rare TSC2 variant in two unrelated individuals with tuberous sclerosis complex
Dergi Makalesi

Dergi Makalesi
Kaynak :
Wiley Online Library
Yayıncı :
American Journal of Medical Genetics Part A
Yazar(lar) :
Anna-Kaisa Niemi , Hope Northrup , Louanne Hudgins , Jonathan A. Bernstein
Yıl :
2011
American Journal of Medical Genetics Part A
Yayıncı Web Sitesi Tam Metin
Kaydet
DOI : 10.1002/ajmg.a.34197
ISSN: 1552-4825
Sayı: 10
Cilt: 155
Sayfa: 2534-2537
5
MTHFR677C-T polymorphism is not excluded as maternal risk for Down syndrome among Turkish women
Dergi Makalesi

Dergi Makalesi
Kaynak :
Wiley Online Library
Yayıncı :
American Journal of Medical Genetics Part A
Yazar(lar) :
María Luisa Martínez-Frías , Eva Bermejo , Elvira Rodríguez-Pinilla , David Prieto , Luis Prieto
Konu :
Genetics(clinical), Genetics
Yıl :
2004
American Journal of Medical Genetics Part A
Yayıncı Web Sitesi Tam Metin
Kaydet
DOI : 10.1002/ajmg.a.30464
ISSN: 1552-4825
Sayı: 4
Cilt: 134A
Sayfa: 461-461
6
Pulmonary atresia/ventricular septal defect associated with facial port-wine stain and retinal vascular abnormality: A new constellation or deletion in chromosome 22q11.2?
Dergi Makalesi

Dergi Makalesi
Kaynak :
Wiley Online Library
Yayıncı :
American Journal of Medical Genetics Part A
Yazar(lar) :
Koen Devriendt , Ann Swillen , Ingeborg Stalmans , Ingele Casteels
Konu :
Genetics(clinical), Genetics
Yıl :
2004
American Journal of Medical Genetics Part A
Yayıncı Web Sitesi Tam Metin
Kaydet
DOI : 10.1002/ajmg.a.30458
ISSN: 1552-4825
Sayı: 3
Cilt: 132A
Sayfa: 340-341
7
Autosomal recessive non-immune hydrops fetalis caused by systemic lymphangiectasia
Dergi Makalesi

Dergi Makalesi
Kaynak :
Wiley Online Library
Yayıncı :
American Journal of Medical Genetics Part A
Yazar(lar) :
Peter Wieacker , Petra Muschke , Karl-Heinz Pollak , Roberto Müller
Konu :
Genetics(clinical), Genetics
Yıl :
2004
American Journal of Medical Genetics Part A
Yayıncı Web Sitesi Tam Metin
Kaydet
DOI : 10.1002/ajmg.a.30392
ISSN: 1552-4825
Sayı: 3
Cilt: 132A
Sayfa: 318-319
8
Response to correspondence by Dr. Finsterer and Dr. Stöllberger: Heterogenous myopathic background of left ventricular hypertrabeculation/noncompaction
Dergi Makalesi

Dergi Makalesi
Kaynak :
Wiley Online Library
Yayıncı :
American Journal of Medical Genetics Part A
Yazar(lar) :
Ludwig Thierfelder , Sabine Sasse-Klaassen , Brenda Gerull , Rolf Jenni , Erwin Oechslin
Konu :
Genetics(clinical), Genetics
Yıl :
2004
American Journal of Medical Genetics Part A
Yayıncı Web Sitesi Tam Metin
Kaydet
DOI : 10.1002/ajmg.a.30211
ISSN: 1552-4825
Sayı: 2
Cilt: 131A
Sayfa: 222-223
9
Association of anophthalmia and esophageal atresia: Four new cases identified by the anophthalmia/microphthalmia clinical registry
Dergi Makalesi

Dergi Makalesi
Kaynak :
Wiley Online Library
Yayıncı :
American Journal of Medical Genetics Part A
Yazar(lar) :
Tanya M. Bardakjian , Adele Schneider
Konu :
Genetics(clinical), Genetics
Yıl :
2005
American Journal of Medical Genetics Part A
Yayıncı Web Sitesi Tam Metin
Kaydet
DOI : 10.1002/ajmg.a.30442
ISSN: 1552-4825
Sayı: 1
Cilt: 132A
Sayfa: 54-56
10
Unique survival in chrondrodysplasia-hermaphrodism syndrome
Dergi Makalesi

Dergi Makalesi
Kaynak :
Wiley Online Library
Yayıncı :
American Journal of Medical Genetics Part A
Yazar(lar) :
Christel Thauvin-Robinet , Francine Mugneret , Patrick Callier , Mondher Chouchane , Emmanuel Garron , Eric Manceau , Nicole Laurent , Christine Durand , Annie Nivelon-Chevallier , Emmanuel Sapin , Frédéric Huet , Laurence Faivre
Konu :
Genetics(clinical), Genetics
Yıl :
2004
American Journal of Medical Genetics Part A
Yayıncı Web Sitesi Tam Metin
Kaydet
DOI : 10.1002/ajmg.a.30417
ISSN: 1552-4825
Sayı: 3
Cilt: 132A
Sayfa: 335-337
11
Fryns syndrome with Hirschsprung disease: Support for possible neural crest involvement
Dergi Makalesi

Dergi Makalesi
Kaynak :
Wiley Online Library
Yayıncı :
American Journal of Medical Genetics Part A
Yazar(lar) :
Fowzan S. Alkuraya , Angela E. Lin , Mira B. Irons , Virginia E. Kimonis
Konu :
Genetics(clinical), Genetics
Yıl :
2005
American Journal of Medical Genetics Part A
Yayıncı Web Sitesi Tam Metin
Kaydet
DOI : 10.1002/ajmg.a.30423
ISSN: 1552-4825
Sayı: 2
Cilt: 132A
Sayfa: 226-230
12
Reply to Unger: The mildest form of campomelic dysplasia
Dergi Makalesi

Dergi Makalesi
Kaynak :
Wiley Online Library
Yayıncı :
American Journal of Medical Genetics Part A
Yazar(lar) :
Heather Stalker , Roberto Zori , Margaret Wallace , Kate Hill-Harfe , Lee Kaplan
Konu :
Genetics(clinical), Genetics
Yıl :
2005
American Journal of Medical Genetics Part A
Yayıncı Web Sitesi Tam Metin
Kaydet
DOI : 10.1002/ajmg.a.30452
ISSN: 1552-4825
Sayı: 1
Cilt: 132A
Sayfa: 114-115
13
An intragenic deletion of the geneMNAT1in a family with pectus deformities
Dergi Makalesi

Dergi Makalesi
Kaynak :
Wiley Online Library
Yayıncı :
American Journal of Medical Genetics Part A
Yazar(lar) :
Jennifer L. Heithaus , Sandra Davenport , Kimberly A. Twyman , Erin E. Torti , Jacqueline R. Batanian
Yıl :
2014
American Journal of Medical Genetics Part A
Yayıncı Web Sitesi Tam Metin
Kaydet
DOI : 10.1002/ajmg.a.36445
ISSN: 1552-4825
Sayı: 5
Cilt: 164
Sayfa: 1293-1297
14
Arterial and venous thrombosis of the cerebral vasculature in GAPO syndrome
Dergi Makalesi

Dergi Makalesi
Kaynak :
Wiley Online Library
Yayıncı :
American Journal of Medical Genetics Part A
Yazar(lar) :
Burcu Zeydan , Gulcin Benbir , Derya Uluduz , Birsen Ince , Baki Goksan , Civan Islak
Yıl :
2014
American Journal of Medical Genetics Part A
Yayıncı Web Sitesi Tam Metin
Kaydet
DOI : 10.1002/ajmg.a.36440
ISSN: 1552-4825
Sayı: 5
Cilt: 164
Sayfa: 1284-1288
15
Cystathionine beta-synthase c.844ins68 gene variant and non-syndromic cleft lip and palate
Dergi Makalesi

Dergi Makalesi
Kaynak :
Wiley Online Library
Yayıncı :
American Journal of Medical Genetics Part A
Yazar(lar) :
Michele Rubini , Roberto Brusati , Giovanna Garattini , Cinzia Magnani , Fabio Liviero , Fabrizio Bianchi , Enrico Tarantino , Alessandro Massei , Susanna Pollastri , Sabrina Carturan , Alice Amadori , Elisa Bertagnin , Alessandra Cavallaro , Anna Fabiano , Andrea Franchella , Elisa Calzolari
Konu :
Genetics(clinical), Genetics
Yıl :
2005
American Journal of Medical Genetics Part A
Yayıncı Web Sitesi Tam Metin
Kaydet
DOI : 10.1002/ajmg.a.30812
ISSN: 1552-4825
Sayı: 4
Cilt: 136A
Sayfa: 368-372
16
Unusual mixed gonadal dysgenesis associated with Müllerian duct persistence, polygonadia, and a 45,X/46,X,idic(Y)(p) karyotype
Dergi Makalesi

Dergi Makalesi
Kaynak :
Wiley Online Library
Yayıncı :
American Journal of Medical Genetics Part A
Yazar(lar) :
Gloria Queipo , Karem Nieto , Patricia Grether , Sara Frías , Rebeca Álvarez , Icela Palma , Luis Eraña , Yolanda R. Peña , Susana Kofman-Alfaro
Konu :
Genetics(clinical), Genetics
Yıl :
2005
American Journal of Medical Genetics Part A
Yayıncı Web Sitesi Tam Metin
Kaydet
DOI : 10.1002/ajmg.a.30737
ISSN: 1552-4825
Sayı: 4
Cilt: 136A
Sayfa: 386-389
17
AJMG reviewers 2004
Dergi Makalesi

Dergi Makalesi
Kaynak :
Wiley Online Library
Yayıncı :
American Journal of Medical Genetics Part A
Konu :
Genetics(clinical), Genetics
Yıl :
2005
American Journal of Medical Genetics Part A
Yayıncı Web Sitesi Tam Metin
Kaydet
DOI : 10.1002/ajmg.a.30817
ISSN: 1552-4825
Sayı: 2
Cilt: 136A
Sayfa: 228-231
18
SHH Ile111Asp in alobar holoprosencephaly in a proposita, whose mother had only a solitary median maxillary incisor
Dergi Makalesi

Dergi Makalesi
Kaynak :
Wiley Online Library
Yayıncı :
American Journal of Medical Genetics Part A
Yazar(lar) :
Kenia Balbi EI-Jaick , Decio Brunoni , Eduardo E. Castilla , Miguel Angelo Moreira , Iêda Mario Orioli
Konu :
Genetics(clinical), Genetics
Yıl :
2005
American Journal of Medical Genetics Part A
Yayıncı Web Sitesi Tam Metin
Kaydet
DOI : 10.1002/ajmg.a.30624
ISSN: 1552-4825
Sayı: 4
Cilt: 136A
Sayfa: 345-345
19
Mutation spectrum in Jewish cystic fibrosis patients in Israel: Implication to carrier screening
Dergi Makalesi

Dergi Makalesi
Kaynak :
Wiley Online Library
Yayıncı :
American Journal of Medical Genetics Part A
Yazar(lar) :
Adina Quint , Israela Lerer , Michal Sagi , Dvorah Abeliovich
Konu :
Genetics(clinical), Genetics
Yıl :
2005
American Journal of Medical Genetics Part A
Yayıncı Web Sitesi Tam Metin
Kaydet
DOI : 10.1002/ajmg.a.30823
ISSN: 1552-4825
Sayı: 3
Cilt: 136A
Sayfa: 246-248
20
Intragenic rearrangements in X-linked intellectual deficiency: Results of a-CGH in a series of 54 patients and identification ofTRPC5andKLHL15as potential XLID genes
Dergi Makalesi

Dergi Makalesi
Kaynak :
Wiley Online Library
Yayıncı :
American Journal of Medical Genetics Part A
Yazar(lar) :
Cécile Mignon-Ravix , Pierre Cacciagli , Nancy Choucair , Cornel Popovici , Chantal Missirian , Mathieu Milh , André Mégarbané , Tiffany Busa , Sophie Julia , Nadine Girard , Catherine Badens , Sabine Sigaudy , Nicole Philip , Laurent Villard
Yıl :
2014
American Journal of Medical Genetics Part A
Yayıncı Web Sitesi Tam Metin
Kaydet
DOI : 10.1002/ajmg.a.36602
ISSN: 1552-4825
Sayı: 8
Cilt: 164
Sayfa: 1991-1997
21
X-chromosome inactivation and telomere size in newborns resulting from intracytoplasmic sperm injection
Dergi Makalesi

Dergi Makalesi
Kaynak :
Wiley Online Library
Yayıncı :
American Journal of Medical Genetics Part A
Yazar(lar) :
W.P. Robinson , M.S. Peñaherrera , J. Gair , C. Hatakeyama , S. Ma
Konu :
Genetics(clinical), Genetics
Yıl :
2005
American Journal of Medical Genetics Part A
Yayıncı Web Sitesi Tam Metin
Kaydet
DOI : 10.1002/ajmg.a.30886
ISSN: 1552-4825
Sayı: 3
Cilt: 137A
Sayfa: 343-345
22
A case of C3 deficiency with a novel homozygous two-base deletion in theC3 gene
Dergi Makalesi

Dergi Makalesi
Kaynak :
Wiley Online Library
Yayıncı :
American Journal of Medical Genetics Part A
Yazar(lar) :
Hirotaka Fujioka , Tadashi Ariga , Minako Yoda , Masaya Ohsaki , Katsumi Horiuchi , Makoto Otsu , Tsuneki Sugihara , Yukio Sakiyama
Konu :
Genetics(clinical), Genetics
Yıl :
2005
American Journal of Medical Genetics Part A
Yayıncı Web Sitesi Tam Metin
Kaydet
DOI : 10.1002/ajmg.a.30964
ISSN: 1552-4825
Sayı: 4
Cilt: 138A
Sayfa: 399-400
23
Partial trisomy 4q and preaxial limb defects
Dergi Makalesi

Dergi Makalesi
Kaynak :
Wiley Online Library
Yayıncı :
American Journal of Medical Genetics Part A
Yazar(lar) :
Iosif W. Lurie
Konu :
Genetics(clinical), Genetics
Yıl :
2005
American Journal of Medical Genetics Part A
Yayıncı Web Sitesi Tam Metin
Kaydet
DOI : 10.1002/ajmg.a.30960
ISSN: 1552-4825
Sayı: 3
Cilt: 138A
Sayfa: 304-305
24
Parkin mutation analysis in clinic patients with early-onset Parkinson's disease (Am J Med Genet 129A: 44-50, 2004)
Dergi Makalesi

Dergi Makalesi
Kaynak :
Wiley Online Library
Yayıncı :
American Journal of Medical Genetics Part A
Yazar(lar) :
P. Poorkaj , J.G. Nutt , D. James , S. Gancher , T.D. Bird , E. Steinbart , G.D. Schellenberg , Haydeh Payami
Konu :
Genetics(clinical), Genetics
Yıl :
2005
American Journal of Medical Genetics Part A
Yayıncı Web Sitesi Tam Metin
Kaydet
DOI : 10.1002/ajmg.a.30937
ISSN: 1552-4825
Sayı: 1
Cilt: 139A
Sayfa: 56-56
25
Reply to letter to the editor by Crow: “Probable new syndrome in a Mexican family with congenital palmar polyonychia and postaxial limb defects”
Dergi Makalesi

Dergi Makalesi
Kaynak :
Wiley Online Library
Yayıncı :
American Journal of Medical Genetics Part A
Yazar(lar) :
J. Román Corona-Rivera , Rubén Fragoso-Herrera , Verónica Loera-Castañeda
Konu :
Genetics(clinical), Genetics
Yıl :
2005
American Journal of Medical Genetics Part A
Yayıncı Web Sitesi Tam Metin
Kaydet
DOI : 10.1002/ajmg.a.30871
ISSN: 1552-4825
Sayı: 2
Cilt: 137A
Sayfa: 234-234
26
Ring chromosome 4 in a patient with early onset type 2 diabetes, deafness, and developmental delay
Dergi Makalesi

Dergi Makalesi
Kaynak :
Wiley Online Library
Yayıncı :
American Journal of Medical Genetics Part A
Yazar(lar) :
Piers R. Blackett , Shibo Li , John J. Mulvihill
Konu :
Genetics(clinical), Genetics
Yıl :
2005
American Journal of Medical Genetics Part A
Yayıncı Web Sitesi Tam Metin
Kaydet
DOI : 10.1002/ajmg.a.20386
ISSN: 1552-4825
Sayı: 2
Cilt: 137A
Sayfa: 213-216
27
Wide spectrum of congenital anomalies including choanal atresia, malformed extremities, and brain and spinal malformations in a girl with a de novo 5.6-Mb deletion of 13q12.11-13q12.13
Dergi Makalesi

Dergi Makalesi
Kaynak :
Wiley Online Library
Yayıncı :
American Journal of Medical Genetics Part A
Yazar(lar) :
Piero Pavone , Silvana Briuglia , Raffaele Falsaperla , Amiel Warm , Vito Pavone , Laura Bernardini , Antonio Novelli , Andrea D. Praticò , Vincenzo Salpietro , Martino Ruggieri
Yıl :
2014
American Journal of Medical Genetics Part A
Yayıncı Web Sitesi Tam Metin
Kaydet
DOI : 10.1002/ajmg.a.36391
ISSN: 1552-4825
Sayı: 7
Cilt: 164
Sayfa: 1734-1743
28
Screening for newMTHFR polymorphisms and NTD risk
Dergi Makalesi

Dergi Makalesi
Kaynak :
Wiley Online Library
Yayıncı :
American Journal of Medical Genetics Part A
Yazar(lar) :
Valerie B. O'Leary , James L. Mills , Anne Parle-McDermott , Faith Pangilinan , Anne M. Molloy , Christopher Cox , Andrea Weiler , Mary Conley , Peadar N. Kirke , John M. Scott , Lawrence C. Brody
Konu :
Genetics(clinical), Genetics
Yıl :
2005
American Journal of Medical Genetics Part A
Yayıncı Web Sitesi Tam Metin
Kaydet
DOI : 10.1002/ajmg.a.30846
ISSN: 1552-4825
Sayı: 2
Cilt: 138A
Sayfa: 99-106
29
No evidence for triallelic inheritance ofMKKS/BBS loci in Amish Mckusick-Kaufman syndrome
Dergi Makalesi

Dergi Makalesi
Kaynak :
Wiley Online Library
Yayıncı :
American Journal of Medical Genetics Part A
Yazar(lar) :
Takaya Nakane , Leslie G. Biesecker
Konu :
Genetics(clinical), Genetics
Yıl :
2005
American Journal of Medical Genetics Part A
Yayıncı Web Sitesi Tam Metin
Kaydet
DOI : 10.1002/ajmg.a.30593
ISSN: 1552-4825
Sayı: 1
Cilt: 138A
Sayfa: 32-34
30
Kallmann syndrome in a 47,XXX patient
Dergi Makalesi

Dergi Makalesi
Kaynak :
Wiley Online Library
Yayıncı :
American Journal of Medical Genetics Part A
Yazar(lar) :
E.P.M. Corssmit , S.B. Seminara , N. Pitteloud , E. Fliers
Konu :
Genetics(clinical), Genetics
Yıl :
2005
American Journal of Medical Genetics Part A
Yayıncı Web Sitesi Tam Metin
Kaydet
DOI : 10.1002/ajmg.a.30996
ISSN: 1552-4825
Sayı: 1
Cilt: 139A
Sayfa: 52-53

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