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Volume 24; Issue 2
Main
Clinical Dysmorphology
Volume 24; Issue 2
Clinical Dysmorphology
Volume 24; Issue 2
1
Ultrastructural and histological findings on examination of skin in osteogenesis imperfecta
Balasubramanian, Meena
,
Wagner, Bart E.
,
Peres, Luiz C.
,
Sobey, Glenda J.
,
Parker, Michael J.
,
Dalton, Ann
,
Arundel, Paul
,
Bishop, Nicholas J.
Journal:
Clinical Dysmorphology
Year:
2015
Language:
english
File:
PDF, 918 KB
Your tags:
english, 2015
2
An interstitial de-novo microdeletion of 3q26.33q27.3 causing severe intrauterine growth retardation
Bouman, Arjan
,
Weiss, Marjan
,
Jansen, Sandra
,
Hankel, Margot
,
Nieuwint, Aggie
,
Adriaanse, Bauke
,
van de Kamp, Jiddeke
,
Tan-Sindhunata, Gita
Journal:
Clinical Dysmorphology
Year:
2015
Language:
english
File:
PDF, 365 KB
Your tags:
english, 2015
3
A novel KIF7 mutation in two affected siblings with acrocallosal syndrome
Karaer, Kadri
,
Yuksel, Zafer
,
Ichkou, Amale
,
Calisir, Cuneyt
,
Attié-Bitach, Tania
Journal:
Clinical Dysmorphology
Year:
2015
Language:
english
File:
PDF, 152 KB
Your tags:
english, 2015
4
A boy with dysmorphic features, intellectual disability, and biallelic homozygous deletion in NRXN1
Holmquist, Peter
Journal:
Clinical Dysmorphology
Year:
2015
Language:
english
File:
PDF, 132 KB
Your tags:
english, 2015
5
Small bowel malrotation in distal 15q duplication
McLaughlin, Brooke M.
,
Hufnagel, Robert B.
,
Saal, Howard M.
Journal:
Clinical Dysmorphology
Year:
2015
Language:
english
File:
PDF, 127 KB
Your tags:
english, 2015
6
Report of a family with craniofrontonasal syndrome
Özylmaz, Berk
,
Gezdirici, Alper
,
Özen, Mustafa
,
Kalenderer, Önder
Journal:
Clinical Dysmorphology
Year:
2015
Language:
english
File:
PDF, 119 KB
Your tags:
english, 2015
7
Myhre syndrome with facial paralysis and branch pulmonary stenosis
Hawkes, Lara
,
Kini, Usha
Journal:
Clinical Dysmorphology
Year:
2015
Language:
english
File:
PDF, 72 KB
Your tags:
english, 2015
8
Two cases of Temple–Baraitser syndrome
Shen, Joseph J.
Journal:
Clinical Dysmorphology
Year:
2015
Language:
english
File:
PDF, 309 KB
Your tags:
english, 2015
9
Vitiligo in the Koolen-de Vries or 17q21.31 microdeletion syndrome
Maley, Alexander M.
,
Spraker, Mary K.
,
de Vries, Bert B.A.
,
Koolen, David A.
Journal:
Clinical Dysmorphology
Year:
2015
Language:
english
File:
PDF, 69 KB
Your tags:
english, 2015
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